MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, impaired/delayed motor and speech development, hypotonia, seizures, impairment of sensory and autonomic system (including obstipation, diarrhea, repeated episodes of apnea and/or desaturation, temperature dysregulation, reduced pain sensation and fever with unknown origin), endocrine and exocrine dysfunction (including pancreatic insufficiency, growth hormone deficiency, hypothyroidism, hypopituitarism, and hypoglycemia) and hematological abnormalities (including hypohemoglobinemia and thrombocytopenia). Craniofacial dysmorphism is reported in all patients with the most common features being high/broad forehead, depressed/wide nasal bridge, short nose, small mouth with tented upper lip vermilion and myopathic facial expression with open mouth. The clinical course during the first years of life can potentially be fatal.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome | |
| fr | Syndrome de retard du développement-dysfonctionnement endocrinien-hypohémoglobinémie associé à MADD | |
| de | MADD-assoziierte syndromale Entwicklungsverzögerung mit endokriner Dysfunktion und Hypohämoglobinämie | DEEAH-Syndrom |
| es | Síndrome de retraso del desarrollo-disfunción endocrina-hipohemoglobinemia asociado a MADD | |
| it | Sindrome ritardo dello sviluppo-disfunzione endocrina-ipoemoglobinemia correlata a MADD | |
| nl | MADD-gerelateerd ontwikkelingsachterstand - endocriene disfunctie - hypohemoglobinemie-syndroom | |
| pt | Síndrome de atraso no desenvolvimento-disfunção endócrina-hipohemoglobinemia MADD-relacionada | |
| pl | MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome | |
| cs | MADD asociovaný syndrom zahrnující vývojové opoždění, endokrinní dysfunkci a hypohemoglobinémii |
Definition in:
Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:183643Genetic polyendocrinopathy
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:101956Polyendocrinopathy
rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MADD | Disease-causing germline mutation(s) in | Assessed | HGNC:6766 | ENSG00000110514 | 603584 | 11p11.2 | MAP kinase activating death domain | 32761064[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 32761064[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32761064[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/686495
- This record as JSON: /data/d/686495.json