# Síndrome de microftalmia sindromática-anoftalmia-coloboma

> Página oficial: https://raras.org/doenca/sindrome-de-microftalmia-sindromatica-anoftalmia-coloboma
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 202948 — https://www.orpha.net/en/disease/detail/202948
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma microftalmia que faz parte de uma síndrome maior.

## Epidemiologia e herança


## Sinais e sintomas (567 fenótipos HPO)

- **Aplasia do trato óptico** — HPO: HP:0010999
- **Anormalidade da anti-hélice** — HPO: HP:0009738
- **Morfologia anormal da falange distal do dedo** — HPO: HP:0009832
- **Achatamento malar** — HPO: HP:0000272
- **Língua fissurada** — HPO: HP:0000221
- **Desvio ulnar do dedo** — HPO: HP:0009465
- **Hipotelorismo** — HPO: HP:0000601
- **Aparência de envelhecimento prematuro** — HPO: HP:0007495
- **Dermatoglifos anormais** — HPO: HP:0007477
- **Hirsutismo generalizado** — HPO: HP:0002230
- **Microtia** — HPO: HP:0008551
- **Polidrâmnio** — HPO: HP:0001561
- **Limitação da mobilidade articular** — HPO: HP:0001376
- **Displasia corioretiniana** — HPO: HP:0007731
- **Morfologia anormal da unha** — HPO: HP:0001597
- **Epispadias** — HPO: HP:0000039
- **Pseudo-hermafroditismo masculino** — HPO: HP:0000037
- **Morfologia anormal do pênis** — HPO: HP:0000036
- **Morfologia anormal do testículo** — HPO: HP:0000035
- **Eritema** — HPO: HP:0010783
- **Anormalidade da pigmentação da pele** — HPO: HP:0001000
- **Lóbulo da orelha fendido** — HPO: HP:0011265
- **Displasia retiniana** — HPO: HP:0007973
- **Regurgitação mitral** — HPO: HP:0001653
- **Vitrite** — HPO: HP:0011531
- **Morfologia anormal do humor vítreo** — HPO: HP:0004327
- **Formato facial anormal** — HPO: HP:0001999
- **Cardiomiopatia hipertrófica** — HPO: HP:0001639
- **Morfologia anormal do cílio** — HPO: HP:0000499
- **Opacidade corneana** — HPO: HP:0007957
- **Atrofia dérmica** — HPO: HP:0004334
- **Anormalidade do ânus** — HPO: HP:0004378
- **Déficit motor funcional** — HPO: HP:0004302
- **Insuficiência respiratória** — HPO: HP:0002878
- **Afasia** — HPO: HP:0002381
- **Mutismo** — HPO: HP:0002300
- **Anormalidade do reto** — HPO: HP:0002034
- **Anormalidade do lóbulo da orelha** — HPO: HP:0000363
- **Aplasia mandibular** — HPO: HP:0009939
- **Nariz largo** — HPO: HP:0000445
- _...e mais 527 sintomas. Ver https://raras.org/doenca/sindrome-de-microftalmia-sindromatica-anoftalmia-coloboma._

## Genes associados (23)

- **RAB3GAP1** — Rab3 GTPase-activating protein catalytic subunit [Disease-causing germline mutation(s) in]
  - Função: Catalytic subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which accelerates the otherwise slow GTP hydrolysis catalyzed by Rab proteins (PubMed:9030515, PubM
- **WNT7B** — Protein Wnt-7b [Candidate gene tested in]
  - Função: Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:30026314). Required for normal fusion of the chori
- **NDUFB11** — NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons fro
- **HMGB3** — High mobility group protein B3 [Disease-causing germline mutation(s) in]
  - Função: Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. Associates with chromatin and binds DNA with a preference for non-canonical DNA stru
- **ERCC2** — General transcription and DNA repair factor IIH helicase subunit XPD [Disease-causing germline mutation(s) in]
  - Função: ATP-dependent 5'-3' DNA helicase (PubMed:31253769, PubMed:8413672, PubMed:9771713). Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for
- **VAX1** — Ventral anterior homeobox 1 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the different
- **ERCC6** — DNA excision repair protein ERCC-6 [Disease-causing germline mutation(s) in]
  - Função: Essential factor involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are rapidly removed from the transcribed strand of act
- **COX7B** — Cytochrome c oxidase subunit 7B, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes suc
- **RAB18** — Ras-related protein Rab-18 [Disease-causing germline mutation(s) in]
  - Função: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:24891604, PubMed:30970241). Rabs cycle b
- **MAB21L2** — Protein mab-21-like 2 [Disease-causing germline mutation(s) in]
  - Função: Required for several aspects of embryonic development including normal development of the eye
- **HCCS** — Holocytochrome c-type synthase [Disease-causing germline mutation(s) in]
  - Função: Lyase that catalyzes the covalent linking of the heme group to the cytochrome C apoprotein to produce the mature functional cytochrome
- **ERCC1** — DNA excision repair protein ERCC-1 [Disease-causing germline mutation(s) in]
  - Função: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of in
- **RARB** — Retinoic acid receptor beta [Disease-causing germline mutation(s) in]
  - Função: Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression
- **OTX2** — Homeobox protein OTX2 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'
- **STRA6** — Receptor for retinol uptake STRA6 [Disease-causing germline mutation(s) in]
  - Função: Functions as a retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome de microftalmia com defeitos cutâneos lineares](https://raras.org/doenca/sindrome-de-microftalmia-com-defeitos-cutaneos-lineares) — ORPHA:2556 — 130 sintomas em comum
- [Síndrome COFS](https://raras.org/doenca/sindrome-cofs) — ORPHA:1466 — 121 sintomas em comum
- [Síndrome Micro](https://raras.org/doenca/sindrome-micro) — ORPHA:2510 — 118 sintomas em comum
- [Síndrome Smith-Lemli-Opitz](https://raras.org/doenca/sindrome-smith-lemli-opitz) — ORPHA:818 — 109 sintomas em comum
- [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 108 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 108 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 104 sintomas em comum
- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 104 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 102 sintomas em comum
- [Síndrome aneuploidia variada em mosaico](https://raras.org/doenca/sindrome-aneuploidia-variada-em-mosaico) — ORPHA:1052 — 101 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Síndrome de microftalmia sindromática-anoftalmia-coloboma. Disponível em: https://raras.org/doenca/sindrome-de-microftalmia-sindromatica-anoftalmia-coloboma
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