MCID: MCR183
MIFTS: 30

Microcephaly-Capillary Malformation Syndrome

Categories: Genetic diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microcephaly-Capillary Malformation Syndrome

MalaCards integrated aliases for Microcephaly-Capillary Malformation Syndrome:

Name: Microcephaly-Capillary Malformation Syndrome 54 23 24 25 56 71 29 69
Mic-Cap Syndrome 23 25 56
Microcephaly-Cutaneous Capillary Malformation Syndrome 56
Mic-Cm Syndrome 56
Miccap 71

Characteristics:

Orphanet epidemiological data:

56
microcephaly-capillary malformation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
capillary malformation are apparent at birth
seizures usually occur in the first months of life
one patient was less severely affected
variable facial dysmorphic features
variable cardiac defects


HPO:

32
microcephaly-capillary malformation syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly-Capillary Malformation Syndrome

OMIM : 54
The microcephaly-capillary malformation syndrome is a congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects (summary by Carter et al., 2011 and Mirzaa et al., 2011). (614261)

MalaCards based summary : Microcephaly-Capillary Malformation Syndrome, also known as mic-cap syndrome, is related to microcephaly, and has symptoms including short stature, failure to thrive and brachydactyly. An important gene associated with Microcephaly-Capillary Malformation Syndrome is STAMBP (STAM Binding Protein). Affiliated tissues include heart, skin and brain.

UniProtKB/Swiss-Prot : 71 Microcephaly-capillary malformation syndrome: A congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects.

Genetics Home Reference : 25 Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).

GeneReviews: NBK174452

Related Diseases for Microcephaly-Capillary Malformation Syndrome

Diseases related to Microcephaly-Capillary Malformation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 microcephaly 10.3

Symptoms & Phenotypes for Microcephaly-Capillary Malformation Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Muscle Soft Tissue:
hypotonia

Skeletal- Feet:
brachydactyly
hypoplastic distal phalanges
abnormal toe positioning

Skin Nails & Hair- Nails:
hypoplastic nails

Neurologic- Central Nervous System:
myoclonus
thin corpus callosum
spastic quadriparesis
cerebral atrophy
delayed psychomotor development, profound
more
Head And Neck- Mouth:
cleft palate

Head And Neck- Face:
sloping forehead
hypoplastic maxilla

Skin Nails & Hair- Skin:
capillary malformations, small, multiple, diffuse

Genitourinary- Bladder:
vesicoureteral reflux (1 patient)

Growth- Other:
failure to thrive
small for gestational age

Head And Neck- Nose:
broad nose
short nose

Skeletal- Hands:
brachydactyly
clinodactyly
hypoplastic distal phalanges

Head And Neck- Eyes:
optic atrophy
ptosis
hypertelorism

Head And Neck- Ears:
low-set ears
hearing loss

Cardiovascular- Heart:
atrial septal defect
ventricular septal defect
patent foramen ovale
right ventricular hypertrophy

Head And Neck- Head:
microcephaly, progressive (3 to 8 sd below the mean)

Cardiovascular- Vascular:
capillary malformations, small, multiple, diffuse

Skin Nails & Hair- Hair:
abnormal hair whorls


Clinical features from OMIM:

614261

Human phenotypes related to Microcephaly-Capillary Malformation Syndrome:

32 (show all 31)
id Description HPO Frequency HPO Source Accession
1 short stature 32 occasional (7.5%) HP:0004322
2 failure to thrive 32 HP:0001508
3 brachydactyly 32 HP:0001156
4 optic atrophy 32 HP:0000648
5 myoclonus 32 HP:0001336
6 cerebral atrophy 32 HP:0002059
7 seizures 32 HP:0001250
8 ptosis 32 HP:0000508
9 low-set ears 32 HP:0000369
10 hypertelorism 32 HP:0000316
11 cleft palate 32 HP:0000175
12 sloping forehead 32 HP:0000340
13 short nose 32 HP:0003196
14 hypoplasia of the corpus callosum 32 HP:0002079
15 ventricular septal defect 32 HP:0001629
16 patent foramen ovale 32 HP:0001655
17 clinodactyly 32 HP:0030084
18 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
19 delayed myelination 32 HP:0012448
20 muscular hypotonia 32 HP:0001252
21 small for gestational age 32 HP:0001518
22 right ventricular hypertrophy 32 HP:0001667
23 spastic tetraparesis 32 HP:0001285
24 wide nose 32 HP:0000445
25 hearing impairment 32 HP:0000365
26 progressive microcephaly 32 HP:0000253
27 severe global developmental delay 32 HP:0011344
28 small nail 32 HP:0001792
29 hypoplasia of the maxilla 32 HP:0000327
30 short distal phalanx of finger 32 HP:0009882
31 abnormal hair whorl 32 HP:0010721

UMLS symptoms related to Microcephaly-Capillary Malformation Syndrome:


myoclonus

Drugs & Therapeutics for Microcephaly-Capillary Malformation Syndrome

Search Clinical Trials , NIH Clinical Center for Microcephaly-Capillary Malformation Syndrome

Genetic Tests for Microcephaly-Capillary Malformation Syndrome

Genetic tests related to Microcephaly-Capillary Malformation Syndrome:

id Genetic test Affiliating Genes
1 Microcephaly-Capillary Malformation Syndrome 29 24 STAMBP

Anatomical Context for Microcephaly-Capillary Malformation Syndrome

MalaCards organs/tissues related to Microcephaly-Capillary Malformation Syndrome:

39
Heart, Skin, Brain

Publications for Microcephaly-Capillary Malformation Syndrome

Articles related to Microcephaly-Capillary Malformation Syndrome:

id Title Authors Year
1
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing. ( 27531570 )
2016
2
The microcephaly-capillary malformation syndrome in two brothers with novel clinical features. ( 25266620 )
2014
3
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. ( 23542699 )
2013
4
Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity. ( 21834052 )
2011
5
The microcephaly-capillary malformation syndrome. ( 21815250 )
2011
6
Microcephaly-Capillary Malformation Syndrome ( 24354023 )
1993

Variations for Microcephaly-Capillary Malformation Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly-Capillary Malformation Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 STAMBP p.Arg14Pro VAR_069806
2 STAMBP p.Arg38Cys VAR_069807 rs143739249
3 STAMBP p.Glu42Gly VAR_069808 rs397509387
4 STAMBP p.Tyr63Cys VAR_069809 rs781694797
5 STAMBP p.Phe100Tyr VAR_069810 rs397514697
6 STAMBP p.Thr313Ile VAR_069811 rs202100019

ClinVar genetic disease variations for Microcephaly-Capillary Malformation Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 STAMBP NM_006463.4(STAMBP): c.125A> G (p.Glu42Gly) single nucleotide variant Pathogenic/Likely pathogenic rs397509387 GRCh37 Chromosome 2, 74058108: 74058108
2 STAMBP NM_201647.2(STAMBP): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs397509388 GRCh37 Chromosome 2, 74074670: 74074670
3 STAMBP NM_006463.4(STAMBP): c.112C> T (p.Arg38Cys) single nucleotide variant Pathogenic rs143739249 GRCh37 Chromosome 2, 74058095: 74058095
4 STAMBP NM_201647.2(STAMBP): c.279+5G> T single nucleotide variant Pathogenic rs397509389 GRCh37 Chromosome 2, 74072020: 74072020
5 STAMBP NM_201647.2(STAMBP): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs397509390 GRCh37 Chromosome 2, 74089381: 74089381
6 STAMBP NM_201647.2(STAMBP): c.299T> A (p.Phe100Tyr) single nucleotide variant Pathogenic rs397514697 GRCh37 Chromosome 2, 74072313: 74072313
7 STAMBP NM_201647.2(STAMBP): c.411delC (p.Ile138Serfs) deletion Pathogenic rs886037633 GRCh38 Chromosome 2, 73847422: 73847422
8 STAMBP NM_201647.2(STAMBP): c.1119-6T> G single nucleotide variant Likely pathogenic rs797046015 GRCh37 Chromosome 2, 74087173: 74087173
9 STAMBP NM_201647.2(STAMBP): c.106_108delTACinsAA (p.Tyr36Asnfs) indel Pathogenic rs886043494 GRCh37 Chromosome 2, 74058089: 74058091
10 STAMBP NM_006463.4(STAMBP): c.649C> T (p.Gln217Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 74074787: 74074787

Expression for Microcephaly-Capillary Malformation Syndrome

Search GEO for disease gene expression data for Microcephaly-Capillary Malformation Syndrome.

Pathways for Microcephaly-Capillary Malformation Syndrome

GO Terms for Microcephaly-Capillary Malformation Syndrome

Sources for Microcephaly-Capillary Malformation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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