PERCHING
MCID: PRC054
MIFTS: 33

Perching Syndrome (PERCHING)

Categories: Genetic diseases, Respiratory diseases

Aliases & Classifications for Perching Syndrome

MalaCards integrated aliases for Perching Syndrome:

Name: Perching Syndrome 57 73 29 6
Perching 57 73
Crisponi/cold-Induced Sweating Syndrome 3, Formerly; Ciss3, Formerly 57
Crisponi/cold-Induced Sweating Syndrome 3, Formerly 57
Crisponi/cold-Induced Sweating Syndrome 3 73
Ciss3, Formerly 57
Ciss3 73

Characteristics:

OMIM®:

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

Miscellaneous:
variable phenotype
onset soon after birth
early death often occurs


HPO:

31
perching syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Perching Syndrome

OMIM® : 57 PERCHING syndrome is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating. Each letter of the PERCHING acronym represents 2 important phenotypic elements: Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations; and facial Gestalt/grimacing and Genitourinary abnormalities (Jeffries et al., 2019). Death in infancy or early childhood often occurs, although survival to the third decade has been reported. Some of the features, such as contractures, dysmorphic craniofacial features, and severe feeding difficulties, are reminiscent of Bohring-Opitz syndrome (605039) (summary by Kanthi et al., 2019 and Buers et al., 2020). (617055) (Updated 05-Mar-2021)

MalaCards based summary : Perching Syndrome, also known as perching, is related to osteoporosis and triiodothyronine receptor auxiliary protein. An important gene associated with Perching Syndrome is KLHL7 (Kelch Like Family Member 7). Affiliated tissues include bone, brain and skin, and related phenotypes are rod-cone dystrophy and dysphagia

UniProtKB/Swiss-Prot : 73 Perching syndrome: An autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating.

Related Diseases for Perching Syndrome

Diseases related to Perching Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 osteoporosis 9.9
2 triiodothyronine receptor auxiliary protein 9.9
3 bone mineral density quantitative trait locus 8 9.9
4 bone mineral density quantitative trait locus 15 9.9
5 pain agnosia 9.9
6 bone disease 9.9
7 oral candidiasis 9.9

Graphical network of the top 20 diseases related to Perching Syndrome:



Diseases related to Perching Syndrome

Symptoms & Phenotypes for Perching Syndrome

Human phenotypes related to Perching Syndrome:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 very rare (1%) HP:0000510
2 dysphagia 31 HP:0002015
3 high palate 31 HP:0000218
4 depressed nasal bridge 31 HP:0005280
5 fever 31 HP:0001945
6 full cheeks 31 HP:0000293
7 feeding difficulties 31 HP:0011968
8 respiratory distress 31 HP:0002098
9 camptodactyly 31 HP:0012385

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
global developmental delay
absent speech
poor head control
more
Head And Neck Eyes:
ptosis
nystagmus
hypertelorism
strabismus
astigmatism
more
Head And Neck Nose:
depressed nasal bridge

Head And Neck Face:
prominent forehead
full cheeks
retrognathia
micrognathia
triangular face
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears
deafness (1 patient)

Skin Nails Hair Hair:
sparse hair
hirsutism

Head And Neck Mouth:
high-arched palate
abnormal contractions of the oropharyngeal muscles

Skeletal:
joint contractures

Muscle Soft Tissue:
axial hypotonia
peripheral hypertonia

Cardiovascular Heart:
septal defects (in some patients)

Metabolic Features:
hyperthermia (patient a)
cold-induced sweating (patient a)

Growth Other:
failure to thrive
intrauterine growth retardation

Abdomen Gastrointestinal:
dysphagia
tube feeding
feeding difficulties, severe

Respiratory:
recurrent respiratory infections
respiratory difficulties

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Genitourinary Bladder:
vesicoureteral reflux

Skeletal Hands:
camptodactyly
clinodactyly
clasped thumbs

Skeletal Feet:
overlapping toes
foot anomalies

Head And Neck Head:
small head circumference

Genitourinary:
genitourinary anomalies (in some patients)

Skin Nails Hair Skin:
nevus flammeus, facial

Clinical features from OMIM®:

617055 (Updated 05-Mar-2021)

Drugs & Therapeutics for Perching Syndrome

Search Clinical Trials , NIH Clinical Center for Perching Syndrome

Genetic Tests for Perching Syndrome

Genetic tests related to Perching Syndrome:

# Genetic test Affiliating Genes
1 Perching Syndrome 29 KLHL7

Anatomical Context for Perching Syndrome

MalaCards organs/tissues related to Perching Syndrome:

40
Bone, Brain, Skin, Eye, Liver, Breast, Hypothalamus

Publications for Perching Syndrome

Articles related to Perching Syndrome:

(show top 50) (show all 305)
# Title Authors PMID Year
1
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. 61 57 6
30300710 2019
2
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. 6 57
30142437 2019
3
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. 6 57
29074562 2017
4
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 6 57
27392078 2016
5
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. 57
31497877 2020
6
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. 61
33576794 2021
7
Evolutionary ecology of Agave: distribution patterns, phylogeny, and coevolution (an homage to Howard S. Gentry). 61
33576061 2021
8
The effects of social environment on standing behavior and the development of claw horn lesions. 61
33272583 2021
9
Coronaviruses in wild birds - A potential and suitable vector for global distribution. 61
32970935 2021
10
Relationship between Range Use and Fearfulness in Free-Range Hens from Different Rearing Enrichments. 61
33503915 2021
11
Application of mismatch equations in dynamic seating designs. 61
32977146 2021
12
The skin of birds' feet: Morphological adaptations of the plantar surface. 61
33098345 2020
13
Prevalence of Keel Bone Damage in Red Jungle Fowls (Gallus gallus)-A Pilot Study. 61
32942644 2020
14
The effects of 2 genetic lines on spatial distribution and use and preference of perch and nest area in an aviary system. 61
32616226 2020
15
Keel fracture changed the behavior and reduced the welfare, production performance, and egg quality in laying hens housed individually in furnished cages. 61
32616227 2020
16
Pilot Study: Correlation of the Surface Skin Temperature Between the Leg and Foot Using Thermographic Imaging in Captive Hawks. 61
32702956 2020
17
Multiple routes to interspecific territoriality in sister species of North American perching birds. 61
32716054 2020
18
Pullet Rearing Affects Collisions and Perch Use in Enriched Colony Cage Layer Housing. 61
32722379 2020
19
Prolactin-releasing peptide increases food intake and affects hypothalamic physiology in Japanese quail (Coturnix japonica). 61
32279041 2020
20
Foraging behaviour and diet in two sympatric shrike species during autumn migration across the Arabian Peninsula. 61
32489281 2020
21
Enhanced locomotor performance on familiar surfaces is uncoupled from morphological plasticity in Anolis lizards. 61
31994351 2020
22
Experimental evidence that matching habitat choice drives local adaptation in a wild population. 61
32429813 2020
23
Effects of Perching Surfaces and Foot Bandaging on Central Metatarsal Foot Pad Weight Loading of the Peregrine Falcon (Falco peregrinus). 61
32237677 2020
24
Minimal Effects of Rearing Enrichments on Pullet Behaviour and Welfare. 61
32085379 2020
25
The masked seducers: Lek courtship behavior in the wrinkle-faced bat Centurio senex (Phyllostomidae). 61
33175837 2020
26
Development of a camera trap for perching dragonflies: a new tool for freshwater environmental assessment. 61
32999757 2020
27
Effects of outdoor ranging on external and internal health parameters for hens from different rearing enrichments. 61
32185113 2020
28
Environmental planning crisis in urban Ghana: Local responses to nature's call. 61
31704399 2020
29
Inferring lifestyle for Aves and Theropoda: A model based on curvatures of extant avian ungual bones. 61
32023255 2020
30
Distribution, habitat suitability, conservation state and natural history of endangered salamander Bolitoglossa pandi. 61
33024630 2020
31
Relationships Between Rearing Enrichments, Range Use, and an Environmental Stressor for Free-Range Laying Hen Welfare. 61
32923465 2020
32
The endemic Mediterranean dwarf palm boosts the recolonization of old-fields: Implications for restoration. 61
31493700 2019
33
Differential female sociality is linked with the fine-scale structure of sexual interactions in replicate groups of red junglefowl, Gallus gallus. 61
31615354 2019
34
Biased movement drives local cryptic coloration on distinct urban pavements. 61
31575366 2019
35
Importance of bird traits for seed dispersal patterns of co-fruiting trees in a patchy forest. 61
30585442 2019
36
Birds land reliably on complex surfaces by adapting their foot-surface interactions upon contact. 61
31385573 2019
37
Short communication: The effects of regrouping in relation to fresh feed delivery in lactating Holstein cows. 61
31103298 2019
38
Are hybrid sit-stand postures a good compromise between sitting and standing? 61
30763145 2019
39
Seasonal plasticity in anti-predatory strategies: Matching of color and color preference for effective crypsis. 61
31171986 2019
40
The anatomy and histochemistry of flight hindlimb posture in birds. II. The flexed hindlimb posture of perching birds. 61
30860607 2019
41
Earth history and the passerine superradiation. 61
30936315 2019
42
Perching and resting-A paradigm for UAV maneuvering with modularized landing gears. 61
33137744 2019
43
Oldest Finch-Beaked Birds Reveal Parallel Ecological Radiations in the Earliest Evolution of Passerines. 61
30744971 2019
44
Dairy cow preference for access to an outdoor pack in summer and winter. 61
30594367 2019
45
Housing and Management Practices on 33 Pullet Farms in Canada. 61
30736364 2019
46
Spatial distribution, prevalence and diversity of haemosporidians in the rufous-collared sparrow, Zonotrichia capensis. 61
30606248 2019
47
Floral micromorphology of the bird-pollinated carnivorous plant species Utricularia menziesii R.Br. (Lentibulariaceae). 61
30169570 2019
48
Linear Space Requirements and Perch Use of Conventional Layer Hybrids and Dual-Purpose Hens in an Aviary System. 61
31338373 2019
49
False head complexity and evidence of predator attacks in male and female hairstreak butterflies (Lepidoptera: Theclinae: Eumaeini) from Mexico. 61
31275751 2019
50
Optimal trajectory generation for time-to-contact based aerial robotic perching. 61
30479312 2018

Variations for Perching Syndrome

ClinVar genetic disease variations for Perching Syndrome:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KLHL7 NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) Deletion Pathogenic 226129 rs879255557 7:23205399-23205399 7:23165780-23165780
2 KLHL7 NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) SNV Pathogenic 226127 rs879255556 7:23207538-23207538 7:23167919-23167919
3 KLHL7 NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) SNV Pathogenic 226130 rs879255558 7:23205495-23205495 7:23165876-23165876
4 KLHL7 NM_001031710.3(KLHL7):c.618+1G>A SNV Pathogenic 487514 rs1554289078 7:23180564-23180564 7:23140945-23140945
5 KLHL7 NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter) SNV Pathogenic 804273 rs746612410 7:23205431-23205431 7:23165812-23165812
6 KLHL7 NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) SNV Pathogenic 279824 rs77078070 7:23205356-23205356 7:23165737-23165737
7 KLHL7 NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter) SNV Pathogenic 816804 rs943339467 7:23180510-23180510 7:23140891-23140891
8 KLHL7 NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) SNV Pathogenic/Likely pathogenic 226128 rs780705654 7:23207535-23207535 7:23167916-23167916
9 KLHL7 NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) SNV Likely pathogenic 279824 rs77078070 7:23205356-23205356 7:23165737-23165737
10 KLHL7 NM_001031710.3(KLHL7):c.178_180GTT[1] (p.Val61del) Microsatellite Conflicting interpretations of pathogenicity 430626 rs1554286093 7:23163452-23163454 7:23123833-23123835
11 KLHL7 NM_001031710.3(KLHL7):c.121-5814A>G SNV Benign 802301 rs17147682 7:23157582-23157582 7:23117963-23117963
12 KLHL7 NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) SNV Benign 359798 rs15775 7:23164701-23164701 7:23125082-23125082
13 KLHL7 NM_001031710.3(KLHL7):c.936+3731_936+3735del Deletion Benign 802302 rs141774430 7:23195556-23195560 7:23155937-23155941

UniProtKB/Swiss-Prot genetic disease variations for Perching Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 KLHL7 p.Arg372Gln VAR_077161 rs879255558
2 KLHL7 p.Arg420Cys VAR_077162 rs780705654
3 KLHL7 p.Cys421Ser VAR_077163 rs879255556

Expression for Perching Syndrome

Search GEO for disease gene expression data for Perching Syndrome.

Pathways for Perching Syndrome

GO Terms for Perching Syndrome

Sources for Perching 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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