Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
diseaseOn this page
Summary
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome (MONDO:0012508) is a disease. A subtype of congenital agammaglobulinemia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 54
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 3 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
54 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0010976 | Decreased total B cell count | Very frequent (80-99%) |
| HP:0000175 | Cleft palate | Frequent (30-79%) |
| HP:0000252 | Microcephaly | Frequent (30-79%) |
| HP:0000347 | Micrognathia | Frequent (30-79%) |
| HP:0000369 | Low-set ears | Frequent (30-79%) |
| HP:0000430 | Underdeveloped nasal alae | Frequent (30-79%) |
| HP:0000452 | Choanal stenosis | Frequent (30-79%) |
| HP:0000581 | Blepharophimosis | Frequent (30-79%) |
| HP:0001036 | Parakeratosis | Frequent (30-79%) |
| HP:0001051 | Seborrheic dermatitis | Frequent (30-79%) |
| HP:0001166 | Arachnodactyly | Frequent (30-79%) |
| HP:0001263 | Global developmental delay | Frequent (30-79%) |
| HP:0001508 | Failure to thrive | Frequent (30-79%) |
| HP:0002098 | Respiratory distress | Frequent (30-79%) |
| HP:0002850 | Decreased circulating total IgM | Frequent (30-79%) |
| HP:0004440 | Coronal craniosynostosis | Frequent (30-79%) |
| HP:0008897 | Postnatal growth retardation | Frequent (30-79%) |
| HP:0011471 | Gastrostomy tube feeding in infancy | Frequent (30-79%) |
| HP:0025092 | Epidermal acanthosis | Frequent (30-79%) |
| HP:0031190 | Superficial dermal perivascular inflammatory infiltrate | Frequent (30-79%) |
| HP:0000023 | Inguinal hernia | Occasional (5-29%) |
| HP:0000028 | Cryptorchidism | Occasional (5-29%) |
| HP:0000054 | Micropenis | Occasional (5-29%) |
| HP:0000126 | Hydronephrosis | Occasional (5-29%) |
| HP:0000160 | Narrow mouth | Occasional (5-29%) |
| HP:0000244 | Brachyturricephaly | Occasional (5-29%) |
| HP:0000278 | Retrognathia | Occasional (5-29%) |
| HP:0000286 | Epicanthus | Occasional (5-29%) |
| HP:0000348 | High forehead | Occasional (5-29%) |
| HP:0000431 | Wide nasal bridge | Occasional (5-29%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (5-29%) |
| HP:0000883 | Thin ribs | Occasional (5-29%) |
| HP:0000890 | Long clavicles | Occasional (5-29%) |
| HP:0000954 | Single transverse palmar crease | Occasional (5-29%) |
| HP:0000964 | Eczematoid dermatitis | Occasional (5-29%) |
| HP:0000989 | Pruritus | Occasional (5-29%) |
| HP:0001081 | Cholelithiasis | Occasional (5-29%) |
| HP:0001344 | Absent speech | Occasional (5-29%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (5-29%) |
| HP:0001845 | Overlapping toe | Occasional (5-29%) |
| HP:0002021 | Pyloric stenosis | Occasional (5-29%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (5-29%) |
| HP:0002208 | Coarse hair | Occasional (5-29%) |
| HP:0002240 | Hepatomegaly | Occasional (5-29%) |
| HP:0002506 | Diffuse cerebral atrophy | Occasional (5-29%) |
| HP:0002594 | Pancreatic hypoplasia | Occasional (5-29%) |
| HP:0002949 | Fused cervical vertebrae | Occasional (5-29%) |
| HP:0004425 | Flat forehead | Occasional (5-29%) |
| HP:0004616 | Cleft vertebral arch | Occasional (5-29%) |
| HP:0005365 | Severe B lymphocytopenia | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome |
| Mondo ID | MONDO:0012508 |
| MeSH | C538055 |
| OMIM | 610483 |
| Orphanet | 83617 |
| SNOMED CT | 722281001 |
| UMLS | C1864848 |
| MedGen | 351236 |
| GARD | 0010011 |
| Is cancer (heuristic) | no |
Disease family
This is a subtype of congenital agammaglobulinemia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › hematologic disorder › congenital hematological disorder › congenital agammaglobulinemia › agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Related subtypes (1): short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.