DEEAH
MCID: DHS002
MIFTS: 23

Deeah Syndrome (DEEAH)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Deeah Syndrome

MalaCards integrated aliases for Deeah Syndrome:

Name: Deeah Syndrome 57 6
Developmental Delay with Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities 57
Deeah 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
variable features
death in childhood (in some patients)
multisystemic disorder


HPO:

31
deeah syndrome:
Onset and clinical course death in infancy death in childhood death in adolescence
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Deeah Syndrome

OMIM® : 57 DEEAH syndrome is an autosomal recessive multisystemic disorder with onset in early infancy. Affected individuals usually present in the perinatal period with respiratory insufficiency, apneic episodes, and generalized hypotonia. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Other common features include endocrine, pancreatic exocrine, and autonomic dysfunction, as well as hematologic disturbances, mainly low hemoglobin. Patients also have dysmorphic and myopathic facial features. Additional more variable features include seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur (summary by Schneeberger et al., 2020). (619004) (Updated 05-Mar-2021)

MalaCards based summary : Deeah Syndrome, is also known as developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities. An important gene associated with Deeah Syndrome is MADD (MAP Kinase Activating Death Domain). Affiliated tissues include testes, pituitary and eye, and related phenotypes are eeg abnormality and scoliosis

Related Diseases for Deeah Syndrome

Symptoms & Phenotypes for Deeah Syndrome

Human phenotypes related to Deeah Syndrome:

31 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 very rare (1%) HP:0002353
2 scoliosis 31 very rare (1%) HP:0002650
3 dysphagia 31 very rare (1%) HP:0002015
4 high palate 31 very rare (1%) HP:0000218
5 short neck 31 very rare (1%) HP:0000470
6 hearing impairment 31 very rare (1%) HP:0000365
7 hepatomegaly 31 very rare (1%) HP:0002240
8 delayed skeletal maturation 31 very rare (1%) HP:0002750
9 narrow palate 31 very rare (1%) HP:0000189
10 delayed speech and language development 31 very rare (1%) HP:0000750
11 malabsorption 31 very rare (1%) HP:0002024
12 short nose 31 very rare (1%) HP:0003196
13 neonatal hypotonia 31 very rare (1%) HP:0001319
14 short stature 31 very rare (1%) HP:0004322
15 cryptorchidism 31 very rare (1%) HP:0000028
16 hypohidrosis 31 very rare (1%) HP:0000966
17 intrauterine growth retardation 31 very rare (1%) HP:0001511
18 wide intermamillary distance 31 very rare (1%) HP:0006610
19 retrognathia 31 very rare (1%) HP:0000278
20 low-set ears 31 very rare (1%) HP:0000369
21 low posterior hairline 31 very rare (1%) HP:0002162
22 epicanthus 31 very rare (1%) HP:0000286
23 myopia 31 very rare (1%) HP:0000545
24 thrombocytopenia 31 very rare (1%) HP:0001873
25 exocrine pancreatic insufficiency 31 very rare (1%) HP:0001738
26 motor delay 31 very rare (1%) HP:0001270
27 neonatal respiratory distress 31 very rare (1%) HP:0002643
28 narrow mouth 31 very rare (1%) HP:0000160
29 impaired pain sensation 31 very rare (1%) HP:0007328
30 micropenis 31 very rare (1%) HP:0000054
31 polyhydramnios 31 very rare (1%) HP:0001561
32 long philtrum 31 very rare (1%) HP:0000343
33 short philtrum 31 very rare (1%) HP:0000322
34 high forehead 31 very rare (1%) HP:0000348
35 chronic diarrhea 31 very rare (1%) HP:0002028
36 severe global developmental delay 31 very rare (1%) HP:0011344
37 decreased body weight 31 very rare (1%) HP:0004325
38 neonatal hypoglycemia 31 very rare (1%) HP:0001998
39 panhypopituitarism 31 very rare (1%) HP:0000871
40 overlapping fingers 31 very rare (1%) HP:0010557
41 alacrima 31 very rare (1%) HP:0000522
42 short palpebral fissure 31 very rare (1%) HP:0012745
43 self-mutilation 31 very rare (1%) HP:0000742
44 hypermetropia 31 very rare (1%) HP:0000540
45 esotropia 31 very rare (1%) HP:0000565
46 anterior pituitary hypoplasia 31 very rare (1%) HP:0010627
47 narrow forehead 31 very rare (1%) HP:0000341
48 prominent nasal tip 31 very rare (1%) HP:0005274
49 chronic constipation 31 very rare (1%) HP:0012450
50 delayed cns myelination 31 very rare (1%) HP:0002188

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
poor overall growth

Abdomen Gastrointestinal:
dysphagia
malabsorption
gastroesophageal reflux
feeding difficulties
diarrhea
more
Head And Neck Neck:
short neck

Abdomen Liver:
hepatomegaly

Skeletal Pelvis:
hip dysplasia

Head And Neck Eyes:
strabismus
myopia
poor eye contact
esotropia
downslanting palpebral fissures
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss (in some patients)

Genitourinary External Genitalia Male:
micropenis

Neurologic Central Nervous System:
inability to walk
autonomic dysfunction
seizures (in some patients)
hypotonia, generalized
impaired intellectual development
more
Skeletal Feet:
cutaneous syndactyly
overlapping digits

Skin Nails Hair Skin:
decreased sweating

Genitourinary Internal Genitalia Male:
undescended testes

Prenatal Manifestations Movement:
decreased fetal movements

Metabolic Features:
temperature dysregulation

Skeletal Spine:
scoliosis

Head And Neck Mouth:
high palate
open mouth
small mouth

Abdomen Spleen:
splenomegaly

Head And Neck Nose:
depressed nasal bridge
short nose
hypoplastic nasal alae

Endocrine Features:
hypoglycemia
growth hormone deficiency
thyroid dysfunction
pituitary dysfunction

Head And Neck Face:
retrognathia
micrognathia
long philtrum
short philtrum
high forehead
more
Hematology:
thrombocytopenia
low hemoglobin

Neurologic Peripheral Nervous System:
self-mutilation
decreased pain sensation

Skeletal Hands:
cutaneous syndactyly
overlapping digits

Skeletal:
delayed bone age
contractures, distal

Abdomen External Features:
distended abdomen

Respiratory:
apneic episodes
respiratory insufficiency, perinatal

Abdomen Pancreas:
pancreatic exocrine insufficiency

Clinical features from OMIM®:

619004 (Updated 05-Mar-2021)

Drugs & Therapeutics for Deeah Syndrome

Search Clinical Trials , NIH Clinical Center for Deeah Syndrome

Genetic Tests for Deeah Syndrome

Anatomical Context for Deeah Syndrome

MalaCards organs/tissues related to Deeah Syndrome:

40
Testes, Pituitary, Eye, Bone, Heart, Thyroid

Publications for Deeah Syndrome

Articles related to Deeah Syndrome:

# Title Authors PMID Year
1
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. 6 57
32761064 2020
2
Expanding the genetic heterogeneity of intellectual disability. 57
28940097 2017

Variations for Deeah Syndrome

ClinVar genetic disease variations for Deeah Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MADD NM_003682.4(MADD):c.2816+1G>A SNV Pathogenic 973492 11:47311045-47311045 11:47289494-47289494
2 MADD NM_003682.4(MADD):c.914G>T (p.Gly305Val) SNV Pathogenic 978083 11:47297704-47297704 11:47276153-47276153
3 MADD NM_003682.4:c.(1862+1_1863-1)_(3759+1_3760-1)del Deletion Pathogenic 978084
4 MADD NM_003682.4(MADD):c.963+1G>A SNV Pathogenic 978085 11:47297754-47297754 11:47276203-47276203
5 MADD NM_003682.4(MADD):c.770C>T (p.Ser257Phe) SNV Pathogenic 978086 11:47297560-47297560 11:47276009-47276009

Expression for Deeah Syndrome

Search GEO for disease gene expression data for Deeah Syndrome.

Pathways for Deeah Syndrome

GO Terms for Deeah Syndrome

Sources for Deeah Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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