MCID: ATK002
MIFTS: 21

Atkin-Flaitz Syndrome

Categories: Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Atkin-Flaitz Syndrome

MalaCards integrated aliases for Atkin-Flaitz Syndrome:

Name: Atkin-Flaitz Syndrome 57 19 58
Atkin Syndrome 57 19 71
X-Linked Intellectual Disability, Atkin Type 58

Characteristics:


Inheritance:

X-linked dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Atkin-Flaitz Syndrome

GARD: 19 A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.

MalaCards based summary: Atkin-Flaitz Syndrome, also known as atkin syndrome, is related to intellectual developmental disorder, x-linked 21, and has symptoms including seizures Affiliated tissues include tongue, and related phenotypes are macrocephaly and intellectual disability

Orphanet: 58 A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.

More information from OMIM: 300431

Related Diseases for Atkin-Flaitz Syndrome

Diseases related to Atkin-Flaitz Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intellectual developmental disorder, x-linked 21 11.1

Symptoms & Phenotypes for Atkin-Flaitz Syndrome

Human phenotypes related to Atkin-Flaitz Syndrome:

58 30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000256
2 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
3 coarse facial features 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000280
4 prominent supraorbital ridges 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000336
5 macroorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000053
6 thick vermilion border 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012471
7 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
8 everted lower lip vermilion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000232
9 obesity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001513
10 broad forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000337
11 broad nasal tip 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000455
12 maxillary lateral incisor microdontia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001593
13 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
14 macrotia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000400
15 frontal bossing 30 HP:0002007
16 scoliosis 30 HP:0002650
17 kyphosis 30 HP:0002808
18 abnormality of the dentition 58 Very frequent (99-80%)
19 anteverted nares 58 Very frequent (99-80%)
20 intellectual disability, mild 30 HP:0001256
21 prominent forehead 30 HP:0011220
22 thick lower lip vermilion 30 HP:0000179
23 genu valgum 30 HP:0002857
24 genu recurvatum 30 HP:0002816
25 joint laxity 30 HP:0001388
26 downslanted palpebral fissures 30 HP:0000494
27 tall stature 30 HP:0000098
28 tapered finger 30 HP:0001182
29 broad palm 30 HP:0001169
30 short palm 30 HP:0004279
31 exaggerated median tongue furrow 30 HP:0002711
32 widely-spaced maxillary central incisors 30 HP:0001566
33 prominent median palatal raphe 30 HP:0002708
34 seizure 30 HP:0001250
35 heavy supraorbital ridges 30 HP:0002054

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Head:
macrocephaly

Skeletal Spine:
scoliosis
hyperkyphosis

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Growth Height:
short stature

Skeletal:
joint laxity

Head And Neck Mouth:
exaggerated median tongue furrow
prominent median palatal raphe
thick lips
prominent lower lip

Skeletal Limbs:
genu valga
genu recurvata

Neurologic Central Nervous System:
seizures
mental retardation, moderate to severe
mental retardation, mild (carrier females)

Head And Neck Face:
coarse facial features
prominent forehead
heavy supraorbital ridges

Genitourinary Internal Genitalia Male:
macroorchidism

Growth Weight:
obesity

Head And Neck Nose:
broad nasal tip
anteverted nostrils

Skeletal Hands:
short, broad hands
tapered fingers

Head And Neck Teeth:
central incisor gap
microdontia (maxillary lateral incisors)

Clinical features from OMIM®:

300431 (Updated 24-Oct-2022)

UMLS symptoms related to Atkin-Flaitz Syndrome:


seizures

Drugs & Therapeutics for Atkin-Flaitz Syndrome

Search Clinical Trials, NIH Clinical Center for Atkin-Flaitz Syndrome

Genetic Tests for Atkin-Flaitz Syndrome

Anatomical Context for Atkin-Flaitz Syndrome

Organs/tissues related to Atkin-Flaitz Syndrome:

MalaCards : Tongue

Publications for Atkin-Flaitz Syndrome

Articles related to Atkin-Flaitz Syndrome:

# Title Authors PMID Year
1
Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. 62 57
7677138 1995
2
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. 57
27848077 2017
3
A new X-linked mental retardation syndrome. 57
4025397 1985
4
[Macro-orchidism: new pathogenetic and histopathologic aspects]. 62
8192500 1994

Variations for Atkin-Flaitz Syndrome

Expression for Atkin-Flaitz Syndrome

Search GEO for disease gene expression data for Atkin-Flaitz Syndrome.

Pathways for Atkin-Flaitz Syndrome

GO Terms for Atkin-Flaitz Syndrome

Sources for Atkin-Flaitz Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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