MCID: MCR183
MIFTS: 29

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 53 23 24 55 71 36 28 69
Mic-Cap Syndrome 23 24 55
Miccap 53 71
Microcephaly-Cutaneous Capillary Malformation Syndrome 55
Mic-Cm Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
microcephaly-capillary malformation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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:

31
microcephaly-capillary malformation syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly-Capillary Malformation Syndrome

OMIM : 53 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 seizures, myoclonus and hypertelorism. An important gene associated with Microcephaly-Capillary Malformation Syndrome is STAMBP (STAM Binding Protein). Affiliated tissues include heart, skin and brain.

Genetics Home Reference : 24 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).

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.

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:

# Related Disease Score Top Affiliating Genes
1 microcephaly 10.3

Symptoms & Phenotypes for Microcephaly-Capillary Malformation Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
myoclonus
cerebral atrophy
delayed myelination
thin corpus callosum
delayed psychomotor development, profound
more
Head And Neck Ears:
low-set ears
hearing loss

Growth Other:
failure to thrive
small for gestational age

Growth Height:
short stature

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

Head And Neck Face:
sloping forehead
hypoplastic maxilla

Muscle Soft Tissue:
hypotonia

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

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

Head And Neck Eyes:
hypertelorism
ptosis
optic atrophy

Skeletal Hands:
clinodactyly
brachydactyly
hypoplastic distal phalanges

Head And Neck Nose:
short nose
broad nose

Head And Neck Mouth:
cleft palate

Skeletal Feet:
brachydactyly
hypoplastic distal phalanges
abnormal toe positioning

Skin Nails Hair Nails:
hypoplastic nails

Genitourinary Bladder:
vesicoureteral reflux (1 patient)

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:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 myoclonus 31 HP:0001336
3 hypertelorism 31 HP:0000316
4 low-set ears 31 HP:0000369
5 clinodactyly 31 HP:0030084
6 ptosis 31 HP:0000508
7 failure to thrive 31 HP:0001508
8 hearing impairment 31 HP:0000365
9 short nose 31 HP:0003196
10 optic atrophy 31 HP:0000648
11 short stature 31 occasional (7.5%) HP:0004322
12 cleft palate 31 HP:0000175
13 severe global developmental delay 31 HP:0011344
14 small nail 31 HP:0001792
15 hypoplasia of the maxilla 31 HP:0000327
16 brachydactyly 31 HP:0001156
17 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
18 ventricular septal defect 31 HP:0001629
19 short distal phalanx of finger 31 HP:0009882
20 wide nose 31 HP:0000445
21 sloping forehead 31 HP:0000340
22 hypoplasia of the corpus callosum 31 HP:0002079
23 cerebral atrophy 31 HP:0002059
24 spastic tetraparesis 31 HP:0001285
25 generalized hypotonia 31 HP:0001290
26 abnormal hair whorl 31 HP:0010721
27 small for gestational age 31 HP:0001518
28 patent foramen ovale 31 HP:0001655
29 progressive microcephaly 31 HP:0000253
30 right ventricular hypertrophy 31 HP:0001667
31 delayed myelination 31 HP:0012448

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:

# Genetic test Affiliating Genes
1 Microcephaly-Capillary Malformation Syndrome 28 STAMBP

Anatomical Context for Microcephaly-Capillary Malformation Syndrome

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

38
Heart, Skin, Brain

Publications for Microcephaly-Capillary Malformation Syndrome

Articles related to Microcephaly-Capillary Malformation Syndrome:

# 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
The microcephaly-capillary malformation syndrome. ( 21815250 )
2011
5
Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity. ( 21834052 )
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
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 STAMBP NM_006463.5(STAMBP): c.125A> G (p.Glu42Gly) single nucleotide variant Pathogenic/Likely pathogenic rs397509387 GRCh37 Chromosome 2, 74058108: 74058108
2 STAMBP NM_201647.3(STAMBP): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs397509388 GRCh37 Chromosome 2, 74074670: 74074670
3 STAMBP NM_201647.3(STAMBP): c.112C> T (p.Arg38Cys) single nucleotide variant Pathogenic rs143739249 GRCh37 Chromosome 2, 74058095: 74058095
4 STAMBP NM_006463.5(STAMBP): c.279+5G> T single nucleotide variant Pathogenic/Likely pathogenic rs397509389 GRCh37 Chromosome 2, 74072020: 74072020
5 STAMBP NM_201647.3(STAMBP): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs397509390 GRCh37 Chromosome 2, 74089381: 74089381
6 STAMBP NM_201647.3(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_201647.3(STAMBP): c.1119-6T> G single nucleotide variant Likely pathogenic rs797046015 GRCh37 Chromosome 2, 74087173: 74087173
9 STAMBP NM_201647.3(STAMBP): c.106_108delTACinsAA (p.Tyr36Asnfs) indel Pathogenic rs886043494 GRCh37 Chromosome 2, 74058089: 74058091
10 STAMBP NM_006463.5(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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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