IG
MCID: IMN001
MIFTS: 45

Iminoglycinuria (IG)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Iminoglycinuria

MalaCards integrated aliases for Iminoglycinuria:

Name: Iminoglycinuria 56 74 52 58 73 36 29 54 6 39 71
Iminoglycinuria, Digenic 56 13 6
Ig 73

Characteristics:

Orphanet epidemiological data:

58
iminoglycinuria
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
hyperglycinuria in heterozygotes


HPO:

31
iminoglycinuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM 56 242600
KEGG 36 H00905
MeSH 43 D000608
MESH via Orphanet 44 C536285
ICD10 via Orphanet 33 E72.0
UMLS via Orphanet 72 C0268654
Orphanet 58 ORPHA42062
MedGen 41 C0268654
UMLS 71 C0268654

Summaries for Iminoglycinuria

OMIM : 56 The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG; 138500) (summary by Broer et al., 2008). Iminoglycinuria may be more frequent in Ashkenazim than in others (Tancredi et al., 1970). Iminoglycinuria also occurs as part of the generalized amino aciduria of the Fanconi renotubular syndrome (134600). (242600)

MalaCards based summary : Iminoglycinuria, also known as iminoglycinuria, digenic, is related to hyperglycinuria and hyper-ige recurrent infection syndrome 1, autosomal dominant. An important gene associated with Iminoglycinuria is SLC36A2 (Solute Carrier Family 36 Member 2), and among its related pathways/superpathways are Protein digestion and absorption and Mineral absorption. Affiliated tissues include eye, retina and kidney, and related phenotypes are prolinuria and hydroxyprolinuria

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 42062 Definition Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

KEGG : 36 Iminoglycinuria is a benign condition characterized by the excretion of proline, hydroxyproline, and glycine in the urine. The disorder is of autosomal recessive inheritance and is genetically complex. Inactivation or reduced function of SLC36A2 (PAT-2) is the predominant determinant of the iminoglycinuria phenotype in humans. Mutations in SLC6A20 (SIT-1) and SLC6A19 (B0AT1) could also be the cause.

UniProtKB/Swiss-Prot : 73 Iminoglycinuria: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine.

Wikipedia : 74 Iminoglycinuria, is an autosomal recessive disorder of renal tubular transport affecting reabsorption of... more...

Related Diseases for Iminoglycinuria

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

(showing 1198, show less)
# Related Disease Score Top Affiliating Genes
1 hyperglycinuria 31.3 SLC6A20 SLC6A19 SLC6A18 SLC36A2
2 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.8
3 hyper ige syndrome 12.8
4 hyper-ige recurrent infection syndrome 2, autosomal recessive 12.7
5 congenital disorder of glycosylation, type ig 12.7
6 hyper-ige recurrent infection syndrome 3, autosomal recessive 12.6
7 hyper-ige recurrent infection syndrome 4, autosomal recessive 12.6
8 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.5
9 amelogenesis imperfecta, type ig 12.5
10 ige responsiveness, atopic 12.5
11 hyper ige recurrent infection syndrome 1 12.5
12 selective ige deficiency disease 12.4
13 stat3 hyper ige syndrome 12.3
14 hyper ige recurrent infection syndrome 2 12.3
15 hyper ige recurrent infection syndrome 3 12.3
16 hyper ige recurrent infection syndrome 4 12.3
17 usher syndrome, type ig 12.2
18 immunodeficiency 35 12.2
19 amelogenesis imperfecta hypoplastic type, ig 12.1
20 acquired monoclonal ig light chain-associated fanconi syndrome 12.1
21 epilepsy, idiopathic generalized 12.1
22 netherton syndrome 12.1
23 immunodeficiency 23 12.0
24 dock8 immunodeficiency syndrome 12.0
25 megaloblastic anemia 11.9
26 immunodeficiency 11b with atopic dermatitis 11.8
27 common variable immunodeficiency 11.8
28 asthma 11.8
29 agammaglobulinemia 11.8
30 immunodeficiency with hyper-igm, type 1 11.7
31 pgm3-congenital disorder of glycosylation 11.7
32 immunoglobulin e concentration, serum 11.7
33 allergic asthma 11.6
34 allergic rhinitis 11.6
35 immunodeficiency with hyper-igm, type 2 11.6
36 c3 glomerulopathy 11.6
37 agammaglobulinemia, x-linked 11.5
38 asthma-related traits 1 11.5
39 asthma-related traits 2 11.5
40 omenn syndrome 11.5
41 immunodeficiency with hyper-igm, type 4 11.5
42 asthma-related traits 4 11.4
43 nephrotic syndrome, type 7 11.4
44 chronic mucocutaneous candidiasis 11.4
45 dermatitis herpetiformis 11.4
46 anemia, autoimmune hemolytic 11.4
47 immunoglobulin a deficiency 1 11.4
48 lymphoplasmacytic lymphoma 11.4
49 amyloidosis, hereditary, transthyretin-related 11.3
50 masa syndrome 11.3
51 immunodeficiency with hyper-igm, type 3 11.3
52 immunodeficiency with hyper-igm, type 5 11.3
53 peeling skin syndrome 1 11.2
54 kagami-ogata syndrome 11.2
55 asthma-related traits 5 11.2
56 asthma-related traits 7 11.2
57 leukocyte adhesion deficiency, type i 11.0
58 dermatitis, atopic, 2 11.0
59 epilepsy, juvenile absence 1 11.0
60 asthma-related traits 3 11.0
61 epilepsy, idiopathic generalized 13 11.0
62 asthma-related traits 6 11.0
63 epilepsy, idiopathic generalized 10 11.0
64 peeling skin syndrome 3 11.0
65 peeling skin syndrome 5 11.0
66 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 11.0
67 peeling skin syndrome 6 11.0
68 immunodeficiency-centromeric instability-facial anomalies syndrome 11.0
69 dermatitis, atopic 11.0
70 rhinitis 11.0
71 dermatitis 11.0
72 cutaneous leishmaniasis 10.9
73 food allergy 10.9
74 systemic lupus erythematosus 10.9
75 allergic hypersensitivity disease 10.9
76 urticaria 10.8
77 hypereosinophilic syndrome 10.8
78 follicular lymphoma 10.8
79 rheumatoid arthritis 10.8
80 influenza 10.7
81 pollen allergy 10.7
82 milk allergy 10.7
83 prostate cancer 10.6
84 alzheimer disease 10.6
85 peanut allergy 10.6
86 aspergillosis 10.6
87 autoimmune disease 10.6
88 pertussis 10.5
89 conjunctivitis 10.5
90 skin disease 10.5
91 respiratory allergy 10.5
92 cytokine deficiency 10.5
93 allergic bronchopulmonary aspergillosis 10.5
94 egg allergy 10.5
95 schistosoma mansoni infection, susceptibility/ 10.5
96 schistosomiasis 10.5
97 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
98 bullous pemphigoid 10.5
99 lymphoma 10.5
100 myeloma, multiple 10.5
101 latex allergy 10.5
102 immune deficiency disease 10.5
103 proteasome-associated autoinflammatory syndrome 1 10.5
104 tetanus 10.5
105 severe combined immunodeficiency 10.4
106 hepatosplenic t-cell lymphoma 10.4
107 leukemia, chronic lymphocytic 10.4
108 allergic conjunctivitis 10.4
109 b-cell lymphoma 10.4
110 angioedema 10.4
111 inflammatory bowel disease 10.4
112 cholera 10.4
113 bronchitis 10.4
114 leukemia 10.4
115 filariasis 10.4
116 glomerulonephritis 10.4
117 wheat allergy 10.4
118 lung disease 10.4
119 melioidosis 10.3
120 colorectal adenoma 10.3
121 neuroblastoma 10.3
122 otitis media 10.3
123 mastocytosis 10.3
124 lupus erythematosus 10.3
125 bacterial infectious disease 10.3
126 esophagitis 10.3
127 plasmacytoma 10.3
128 exanthem 10.3
129 penicillin allergy 10.3
130 esophagitis, eosinophilic, 1 10.3
131 immunoglobulin alpha deficiency 10.3
132 keratoconjunctivitis 10.3
133 exercise-induced anaphylaxis 10.3
134 burkitt lymphoma 10.3
135 nephrotic syndrome 10.3
136 eosinophilic pneumonia 10.3
137 cystathioninuria 10.3
138 gyrate atrophy of choroid and retina 10.3
139 glycine encephalopathy 10.3
140 aminoaciduria 10.3
141 cystic fibrosis 10.3
142 48,xyyy 10.3
143 contact dermatitis 10.3
144 drug allergy 10.3
145 diphtheria 10.3
146 candidiasis 10.3
147 enterocolitis 10.3
148 leukemia, acute lymphoblastic 10.3
149 echinococcosis 10.3
150 pulmonary eosinophilia 10.3
151 intrinsic asthma 10.2
152 ulcerative colitis 10.2
153 neural tube defects 10.2
154 scoliosis 10.2
155 crohn's disease 10.2
156 diarrhea 10.2
157 toxic shock syndrome 10.2
158 graft-versus-host disease 10.2
159 vasculitis 10.2
160 pancreatic ductal adenocarcinoma 10.2
161 renal oncocytoma 10.2
162 b-cell growth factor 10.2
163 fish allergy 10.2
164 scabies 10.2
165 psoriasis 10.2
166 pemphigus 10.2
167 cow milk allergy 10.2
168 filarial elephantiasis 10.2
169 haemophilus influenzae 10.2
170 bronchiectasis 10.2
171 cystinuria 10.1
172 alpha-1-antitrypsin deficiency 10.1
173 3-methylcrotonyl-coa carboxylase deficiency 10.1
174 ornithinemia 10.1
175 spasticity 10.1
176 celiac disease 1 10.1
177 malaria 10.1
178 gastroenteritis 10.1
179 pustulosis of palm and sole 10.1
180 acquired immunodeficiency syndrome 10.1
181 anisakiasis 10.1
182 parasitic helminthiasis infectious disease 10.1
183 toxocariasis 10.1
184 vernal keratoconjunctivitis 10.1
185 kala-azar 1 10.1
186 diffuse large b-cell lymphoma 10.1
187 strongyloidiasis 10.1
188 leishmaniasis 10.1
189 amyloidosis 10.1
190 atopic keratoconjunctivitis 10.1
191 thymoma, familial 10.1
192 shrimp allergy 10.1
193 fruit allergy 10.1
194 graves' disease 10.1
195 thymoma 10.1
196 eosinophilic gastroenteritis 10.1
197 herpes simplex 10.1
198 lymphoma, hodgkin, classic 10.1
199 helix syndrome 10.1
200 pulmonary tuberculosis 10.1
201 measles 10.1
202 rubella 10.1
203 respiratory failure 10.1
204 mast-cell leukemia 10.1
205 47,xyy 10.1
206 acute graft versus host disease 10.1
207 ataxia-telangiectasia 10.1
208 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
209 leukemia, acute myeloid 10.1
210 ascaris lumbricoides infection 10.1
211 lymphoma, non-hodgkin, familial 10.1
212 cysticercosis 10.1
213 giardiasis 10.1
214 telangiectasis 10.1
215 uveitis 10.1
216 allergic contact dermatitis 10.1
217 churg-strauss syndrome 10.1
218 neurodermatitis 10.1
219 purpura 10.1
220 trichinosis 10.1
221 toxoplasmosis 10.1
222 cerebrofacial arteriovenous metameric syndrome 10.1
223 sarcoidosis 1 10.0
224 pulmonary disease, chronic obstructive 10.0
225 colitis 10.0
226 mumps 10.0
227 iga glomerulonephritis 10.0
228 systemic mastocytosis 10.0
229 mast cell neoplasm 10.0
230 extracutaneous mastocytoma 10.0
231 extrinsic allergic alveolitis 10.0
232 arthritis 10.0
233 ovarian cancer 10.0
234 papillomatosis, confluent and reticulated 10.0
235 leprosy 3 10.0
236 mycosis fungoides 10.0
237 ataxia and polyneuropathy, adult-onset 10.0
238 psoriatic arthritis 10.0
239 leukemia, acute lymphoblastic 3 10.0
240 intestinal schistosomiasis 10.0
241 chlamydia 10.0
242 hepatitis a 10.0
243 bronchiolitis 10.0
244 ascaridiasis 10.0
245 nut allergy 10.0
246 vasomotor rhinitis 10.0
247 kidney disease 10.0
248 chronic rhinitis 10.0
249 neuropathy 10.0
250 plasma cell leukemia 10.0
251 congenital disorders of n-linked glycosylation and multiple pathway 10.0
252 hansen's disease 10.0
253 rapidly involuting congenital hemangioma 10.0
254 fibrosis of extraocular muscles, congenital, 1 10.0
255 pemphigus vulgaris, familial 10.0
256 volvulus of midgut 10.0
257 marginal zone b-cell lymphoma 10.0
258 ichthyosis 10.0
259 gastritis 10.0
260 liver disease 10.0
261 elephantiasis 10.0
262 human immunodeficiency virus infectious disease 10.0
263 chickenpox 10.0
264 dermatophytosis 10.0
265 encephalitis 10.0
266 allergic angiitis 10.0
267 glioma 10.0
268 pemphigus foliaceus 10.0
269 splenomegaly 10.0
270 cytomegalovirus infection 10.0
271 glial tumor 10.0
272 pfeiffer syndrome 10.0
273 leukemia, chronic lymphocytic 2 10.0
274 helicobacter pylori infection 10.0
275 kawasaki disease 10.0
276 congenital disorder of glycosylation, type in 10.0
277 igg4-related disease 10.0
278 onchocerciasis 10.0
279 chagas disease 10.0
280 plasmodium falciparum malaria 10.0
281 thrombocytopenia 10.0
282 viral hepatitis 10.0
283 hepatitis b 10.0
284 glioblastoma multiforme 10.0
285 chronic granulomatous disease 10.0
286 myopathy 10.0
287 intestinal disease 10.0
288 t-cell lymphoblastic leukemia/lymphoma 10.0
289 stomatitis 10.0
290 irritable bowel syndrome 10.0
291 allergic encephalomyelitis 10.0
292 homologous wasting disease 10.0
293 leukemia, t-cell, chronic 10.0
294 precursor t-cell acute lymphoblastic leukemia 10.0
295 atherosclerosis susceptibility 9.9
296 gastroesophageal reflux 9.9
297 multiple sclerosis 9.9
298 felty syndrome 9.9
299 triiodothyronine receptor auxiliary protein 9.9
300 sudden infant death syndrome 9.9
301 dermatitis herpetiformis, familial 9.9
302 aplastic anemia 9.9
303 membranous nephropathy 9.9
304 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
305 autoimmune uveitis 9.9
306 mantle cell lymphoma 9.9
307 peach allergy 9.9
308 beta-lactam allergy 9.9
309 protein-losing enteropathy 9.9
310 microcephaly 9.9
311 paracoccidioidomycosis 9.9
312 shipyard eye 9.9
313 arthus reaction 9.9
314 lymphadenitis 9.9
315 epilepsy 9.9
316 constipation 9.9
317 demyelinating disease 9.9
318 myelitis 9.9
319 vaccinia 9.9
320 conjunctival disease 9.9
321 liver cirrhosis 9.9
322 peripheral nervous system disease 9.9
323 lymphopenia 9.9
324 connective tissue disease 9.9
325 periodontitis 9.9
326 collagen disease 9.9
327 molluscum contagiosum 9.9
328 chorioretinitis 9.9
329 lichen planus 9.9
330 alopecia 9.9
331 muscular dystrophy 9.9
332 chromosomal triplication 9.9
333 aneurysm 9.9
334 migraine with or without aura 1 9.9
335 down syndrome 9.9
336 wiskott-aldrich syndrome 9.9
337 human immunodeficiency virus type 1 9.9
338 hepatitis c virus 9.9
339 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
340 cutaneous t cell lymphoma 9.9
341 tomato allergy 9.9
342 lymphoproliferative syndrome 9.9
343 childhood acute lymphocytic leukemia 9.9
344 middle east respiratory syndrome 9.9
345 dermatomyositis 9.9
346 tonsillitis 9.9
347 allergic urticaria 9.9
348 interstitial nephritis 9.9
349 paragonimiasis 9.9
350 t cell deficiency 9.9
351 rabies 9.9
352 neutropenia 9.9
353 clonorchiasis 9.9
354 cystic echinococcosis 9.9
355 hepatitis c 9.9
356 craniosynostosis 9.9
357 epidermolysis bullosa 9.9
358 syphilis 9.9
359 folliculitis 9.9
360 proliferative glomerulonephritis 9.9
361 pneumonia 9.9
362 eye disease 9.9
363 appendicitis 9.9
364 osteoarthritis 9.9
365 seborrheic dermatitis 9.9
366 macroglobulinemia 9.9
367 visceral leishmaniasis 9.9
368 viral infectious disease 9.9
369 meningitis 9.9
370 chronic eosinophilic pneumonia 9.9
371 al amyloidosis 9.9
372 cold urticaria 9.9
373 stevens-johnson syndrome/toxic epidermal necrolysis 9.9
374 systemic autoimmune disease 9.9
375 alcohol dependence 9.8
376 spondyloarthropathy 1 9.8
377 attention deficit-hyperactivity disorder 9.8
378 renal cell carcinoma, nonpapillary 9.8
379 ichthyosis vulgaris 9.8
380 myositis 9.8
381 retinal detachment 9.8
382 scleroderma, familial progressive 9.8
383 thrombocytopenic purpura, autoimmune 9.8
384 lung cancer 9.8
385 diabetes mellitus, type i 9.8
386 fabry disease 9.8
387 yemenite deaf-blind hypopigmentation syndrome 9.8
388 branchiootic syndrome 1 9.8
389 mycobacterium tuberculosis 1 9.8
390 granulomatosis with polyangiitis 9.8
391 deficiency anemia 9.8
392 chlamydia pneumonia 9.8
393 autoimmune pancreatitis 9.8
394 autosomal recessive disease 9.8
395 physical urticaria 9.8
396 prolymphocytic leukemia 9.8
397 common cold 9.8
398 japanese encephalitis 9.8
399 brucellosis 9.8
400 pulmonary edema 9.8
401 pyelonephritis 9.8
402 visual epilepsy 9.8
403 inflammatory spondylopathy 9.8
404 alveolar echinococcosis 9.8
405 primary biliary cirrhosis 9.8
406 acute leukemia 9.8
407 loiasis 9.8
408 polyneuropathy 9.8
409 oral candidiasis 9.8
410 duodenal ulcer 9.8
411 squamous cell carcinoma 9.8
412 vernal conjunctivitis 9.8
413 chronic conjunctivitis 9.8
414 hairy cell leukemia 9.8
415 membranoproliferative glomerulonephritis 9.8
416 adenocarcinoma 9.8
417 interstitial lung disease 9.8
418 histiocytosis 9.8
419 pulmonary fibrosis 9.8
420 epidermolysis bullosa acquisita 9.8
421 hemolytic anemia 9.8
422 spondylitis 9.8
423 monoclonal gammopathy of uncertain significance 9.8
424 gastrointestinal system disease 9.8
425 myocarditis 9.8
426 herpes zoster 9.8
427 myeloid leukemia 9.8
428 intermediate coronary syndrome 9.8
429 mucocutaneous leishmaniasis 9.8
430 hypoglycemia 9.8
431 hemophilia 9.8
432 mast cell activation syndrome 9.8
433 polymyositis 9.8
434 stachybotrys chartarum 9.8
435 dysphagia 9.8
436 headache 9.8
437 seizure disorder 9.8
438 idiopathic nephrotic syndrome 9.8
439 neurofibromatosis, type ii 9.8
440 arteries, anomalies of 9.8
441 colorectal cancer 9.8
442 mastocytosis, cutaneous 9.8
443 ocular cicatricial pemphigoid 9.8
444 prolidase deficiency 9.8
445 polykaryocytosis inducer 9.8
446 dowling-degos disease 1 9.8
447 pancreatic cancer 9.8
448 sjogren syndrome 9.8
449 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.8
450 autoimmune lymphoproliferative syndrome 9.8
451 langerhans cell histiocytosis 9.8
452 leukemia, chronic myeloid 9.8
453 myocardial infarction 9.8
454 dengue virus 9.8
455 leptin deficiency or dysfunction 9.8
456 cholangiocarcinoma 9.8
457 mucopolysaccharidosis-plus syndrome 9.8
458 hyperlipoproteinemia, type iii 9.8
459 lipoprotein quantitative trait locus 9.8
460 peripheral vascular disease 9.8
461 angina pectoris 9.8
462 chlorhexidine allergy 9.8
463 autoimmune glomerulonephritis 9.8
464 invasive aspergillosis 9.8
465 secondary progressive multiple sclerosis 9.8
466 interleukin-7 receptor alpha deficiency 9.8
467 keratoconus 9.8
468 pleurisy 9.8
469 lactose intolerance 9.8
470 rickets 9.8
471 microphthalmia 9.8
472 gnathomiasis 9.8
473 emery-dreifuss muscular dystrophy 9.8
474 lyme disease 9.8
475 synostosis 9.8
476 hypertrophic cardiomyopathy 9.8
477 cryptococcosis 9.8
478 goiter 9.8
479 plica syndrome 9.8
480 dysentery 9.8
481 tinea pedis 9.8
482 migraine without aura 9.8
483 focal segmental glomerulosclerosis 9.8
484 opisthorchiasis 9.8
485 interstitial cystitis 9.8
486 sclerosing cholangitis 9.8
487 cholinergic urticaria 9.8
488 cystitis 9.8
489 melanoma 9.8
490 pharyngitis 9.8
491 synovitis 9.8
492 sick building syndrome 9.8
493 severe acute respiratory syndrome 9.8
494 early myoclonic encephalopathy 9.8
495 gingivitis 9.8
496 proctitis 9.8
497 fibrosarcoma 9.8
498 laryngitis 9.8
499 skin carcinoma 9.8
500 cellulitis 9.8
501 mixed connective tissue disease 9.8
502 systemic scleroderma 9.8
503 pyoderma 9.8
504 avian influenza 9.8
505 intrahepatic cholangiocarcinoma 9.8
506 pancreatitis 9.8
507 demyelinating polyneuropathy 9.8
508 t-cell acute lymphoblastic leukemia 9.8
509 juvenile rheumatoid arthritis 9.8
510 thyroiditis 9.8
511 enterobiasis 9.8
512 septic arthritis 9.8
513 cataract 9.8
514 chronic fatigue syndrome 9.8
515 amebiasis 9.8
516 cholangitis 9.8
517 aphthous stomatitis 9.8
518 pulmonary emphysema 9.8
519 coronary artery aneurysm 9.8
520 gnathostoma infection 9.8
521 human t-cell leukemia virus type 1 9.8
522 multifocal motor neuropathy 9.8
523 papular urticaria 9.8
524 sutton disease 2 9.8
525 thrombasthenia 9.8
526 perioral myoclonia with absences 9.8
527 argyria 9.8
528 maternal uniparental disomy 9.8
529 overgrowth syndrome 9.8
530 saethre-chotzen syndrome 9.7
531 breast cancer 9.7
532 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.7
533 cryoglobulinemia, familial mixed 9.7
534 dermal ridges-off-the-end 9.7
535 erythroleukemia, familial 9.7
536 lymphoma, mucosa-associated lymphoid type 9.7
537 hashimoto thyroiditis 9.7
538 hypercholesterolemia, familial, 1 9.7
539 endosteal hyperostosis, autosomal dominant 9.7
540 immunoglobulin switch sequences 9.7
541 inclusion body myositis 9.7
542 keratitis, hereditary 9.7
543 meniere disease 9.7
544 paroxysmal extreme pain disorder 9.7
545 silver-russell syndrome 1 9.7
546 spondylosis, cervical 9.7
547 alopecia universalis congenita 9.7
548 chordoma 9.7
549 dubowitz syndrome 9.7
550 nijmegen breakage syndrome 9.7
551 myasthenia gravis 9.7
552 myelofibrosis 9.7
553 epilepsy, myoclonic juvenile 9.7
554 phenylketonuria 9.7
555 insulin-like growth factor i 9.7
556 squamous cell carcinoma, head and neck 9.7
557 xeroderma pigmentosum, variant type 9.7
558 severe combined immunodeficiency, x-linked 9.7
559 hemophilia a 9.7
560 ichthyosis, x-linked 9.7
561 aging 9.7
562 diabetes and deafness, maternally inherited 9.7
563 patent ductus venosus 9.7
564 xanthomatosis 9.7
565 macular degeneration, age-related, 1 9.7
566 light fixation seizure syndrome 9.7
567 sickle cell anemia 9.7
568 cervical cancer 9.7
569 paragangliomas 3 9.7
570 body mass index quantitative trait locus 1 9.7
571 nasopharyngeal carcinoma 9.7
572 anxiety 9.7
573 severe cutaneous adverse reaction 9.7
574 west nile virus 9.7
575 lung cancer susceptibility 3 9.7
576 microvascular complications of diabetes 3 9.7
577 microvascular complications of diabetes 4 9.7
578 microvascular complications of diabetes 6 9.7
579 microvascular complications of diabetes 7 9.7
580 dermatitis, atopic, 9 9.7
581 cholangitis, primary sclerosing 9.7
582 cyanosis, transient neonatal 9.7
583 alacrima, achalasia, and mental retardation syndrome 9.7
584 temple syndrome 9.7
585 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.7
586 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.7
587 amoxicillin allergy 9.7
588 cephalosporin allergy 9.7
589 oxirane allergy 9.7
590 erythema multiforme 9.7
591 taeniasis 9.7
592 sleep apnea 9.7
593 lung abscess 9.7
594 apple allergy 9.7
595 crustacean allergy 9.7
596 salmonellosis 9.7
597 celery allergy 9.7
598 cryptococcal meningitis 9.7
599 covid-19 9.7
600 sensorineural hearing loss 9.7
601 viral meningitis 9.7
602 nasopharyngitis 9.7
603 meningoencephalitis 9.7
604 pre-eclampsia 9.7
605 chronic pyelonephritis 9.7
606 hypospadias 9.7
607 hydrocephalus 9.7
608 lipoid nephrosis 9.7
609 sarcoma 9.7
610 heart disease 9.7
611 hemopericardium 9.7
612 dysgammaglobulinemia 9.7
613 pericardial effusion 9.7
614 clubfoot 9.7
615 optic neuritis 9.7
616 pulmonary alveolar proteinosis 9.7
617 aseptic meningitis 9.7
618 cough variant asthma 9.7
619 trichuriasis 9.7
620 von willebrand's disease 9.7
621 blastomycosis 9.7
622 nephrocalcinosis 9.7
623 guillain-barre syndrome 9.7
624 acute proliferative glomerulonephritis 9.7
625 typhoid fever 9.7
626 congenital toxoplasmosis 9.7
627 cholestasis 9.7
628 eclampsia 9.7
629 familial hypercholesterolemia 9.7
630 squamous cell papilloma 9.7
631 urinary schistosomiasis 9.7
632 childhood type dermatomyositis 9.7
633 norwegian scabies 9.7
634 farmer's lung 9.7
635 hypothyroidism 9.7
636 dermatomycosis 9.7
637 fungal infectious disease 9.7
638 keratosis 9.7
639 vascular disease 9.7
640 pericarditis 9.7
641 neuritis 9.7
642 autoimmune hepatitis 9.7
643 vaginitis 9.7
644 spondylosis 9.7
645 vulvovaginal candidiasis 9.7
646 hidradenitis suppurativa 9.7
647 hidradenitis 9.7
648 polyclonal hypergammaglobulinemia 9.7
649 papillary conjunctivitis 9.7
650 hematologic cancer 9.7
651 papilloma 9.7
652 skin atrophy 9.7
653 parasitic protozoa infectious disease 9.7
654 endometriosis 9.7
655 cryoglobulinemia 9.7
656 astrocytoma 9.7
657 scleredema adultorum 9.7
658 lipid metabolism disorder 9.7
659 aortic aneurysm 9.7
660 arthropathy 9.7
661 secondary syphilis 9.7
662 spindle cell sarcoma 9.7
663 immune-complex glomerulonephritis 9.7
664 middle ear disease 9.7
665 chronic inflammatory demyelinating polyradiculoneuropathy 9.7
666 adult acute lymphocytic leukemia 9.7
667 adenosine deaminase deficiency 9.7
668 congestive heart failure 9.7
669 paraplegia 9.7
670 reactive arthritis 9.7
671 acute disseminated encephalomyelitis 9.7
672 progressive multifocal leukoencephalopathy 9.7
673 viral encephalitis 9.7
674 plasma cell neoplasm 9.7
675 anthrax disease 9.7
676 peptic ulcer disease 9.7
677 end stage renal disease 9.7
678 mite infestation 9.7
679 hyperthyroidism 9.7
680 peritonitis 9.7
681 polyhydramnios 9.7
682 pyoderma gangrenosum 9.7
683 duodenitis 9.7
684 fascioliasis 9.7
685 neuromyelitis optica 9.7
686 learning disability 9.7
687 pityriasis versicolor 9.7
688 ritter's disease 9.7
689 cleft lip 9.7
690 diabetes mellitus 9.7
691 status asthmaticus 9.7
692 iridocyclitis 9.7
693 croup 9.7
694 blepharitis 9.7
695 bacterial meningitis 9.7
696 disseminated eosinophilic collagen disease 9.7
697 latent syphilis 9.7
698 indolent myeloma 9.7
699 fasciitis 9.7
700 alopecia areata 9.7
701 hydrocele 9.7
702 sickle cell disease 9.7
703 anca-associated vasculitis 9.7
704 chronic graft versus host disease 9.7
705 dentinogenesis imperfecta type 2 9.7
706 diencephalic syndrome 9.7
707 ichthyosis linearis circumflexa 9.7
708 light chain deposition disease 9.7
709 lymphosarcoma 9.7
710 microscopic polyangiitis 9.7
711 myxozoa 9.7
712 neisseria meningitidis infection 9.7
713 ocular toxoplasmosis 9.7
714 oral lichen planus 9.7
715 plasmablastic lymphoma 9.7
716 primary cutaneous follicle center lymphoma 9.7
717 staphylococcal toxic shock syndrome 9.7
718 depression 9.7
719 back pain 9.7
720 cerebral aneurysms 9.7
721 posttransplant acute limbic encephalitis 9.7
722 primary cutaneous marginal zone b-cell lymphoma 9.7
723 cleft lip/palate 9.7
724 primary eosinophilic gastrointestinal disease 9.7
725 erythema multiforme major 9.7
726 pik3ca-related overgrowth syndrome 9.7
727 staphylococcal scarlet fever 9.7
728 discoid lupus erythematosus 9.7
729 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 9.7
730 red cell aplasia 9.7
731 undetermined colitis 9.7
732 heiner syndrome 9.7
733 aortic aneurysm, familial abdominal, 1 9.5
734 achondroplasia 9.5
735 diamond-blackfan anemia 1 9.5
736 angelman syndrome 9.5
737 arbitrary restriction polymorphism 1 9.5
738 hepatocellular carcinoma 9.5
739 cardiac conduction defect 9.5
740 cervical rib 9.5
741 coloboma of macula 9.5
742 dermographism, familial 9.5
743 beckwith-wiedemann syndrome 9.5
744 factor viii deficiency 9.5
745 fucosidase regulator 9.5
746 hair whorl 9.5
747 hernia, hiatus 9.5
748 hypertriglyceridemia, familial 9.5
749 immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist 9.5
750 solitary median maxillary central incisor 9.5
751 kaposi sarcoma 9.5
752 marfan syndrome 9.5
753 melanoma, uveal 9.5
754 motion sickness 9.5
755 myelopathy, htlv-1-associated 9.5
756 iga nephropathy 1 9.5
757 neutrophil migration 9.5
758 obsessive-compulsive disorder 9.5
759 osteoporosis 9.5
760 pheochromocytoma 9.5
761 polycystic kidney disease 1 with or without polycystic liver disease 9.5
762 actinic prurigo 9.5
763 porphyria cutanea tarda 9.5
764 prader-willi syndrome 9.5
765 pulmonary fibrosis, idiopathic 9.5
766 ragweed sensitivity 9.5
767 small cell cancer of the lung 9.5
768 t-cell subgroups, non-hla-linked 9.5
769 teeth present at birth 9.5
770 temporal arteritis 9.5
771 thrombophilia due to thrombin defect 9.5
772 digeorge syndrome 9.5
773 tuftsin deficiency 9.5
774 vitiligo-associated multiple autoimmune disease susceptibility 6 9.5
775 wilms tumor 1 9.5
776 zinc finger protein 1 9.5
777 atrophoderma vermiculata 9.5
778 australia antigen 9.5
779 autism 9.5
780 chediak-higashi syndrome 9.5
781 chondrosarcoma 9.5
782 cystic disease of lung 9.5
783 eosinophilic fasciitis 9.5
784 fryns syndrome 9.5
785 gastroschisis 9.5
786 gaucher disease, type i 9.5
787 hydatidiform mole, recurrent, 1 9.5
788 glycogen storage disease ii 9.5
789 urofacial syndrome 1 9.5
790 t-cell immunodeficiency with thymic aplasia 9.5
791 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.5
792 nephrotic syndrome, type 1 9.5
793 ocular motor apraxia 9.5
794 3-methylglutaconic aciduria, type iii 9.5
795 subacute sclerosing panencephalitis 9.5
796 reticulum cell sarcoma 9.5
797 retinitis pigmentosa 9.5
798 graves disease 1 9.5
799 body mass index quantitative trait locus 11 9.5
800 alopecia, androgenetic, 2 9.5
801 mcleod syndrome 9.5
802 arts syndrome 9.5
803 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.5
804 hemophilia b 9.5
805 isolated growth hormone deficiency, type iii, with agammaglobulinemia 9.5
806 lymphoproliferative syndrome, x-linked, 1 9.5
807 mucopolysaccharidosis, type ii 9.5
808 muscular dystrophy, duchenne type 9.5
809 epilepsy, nocturnal frontal lobe, 1 9.5
810 cd4/cd8 t-cell ratio 9.5
811 body mass index quantitative trait locus 9 9.5
812 body mass index quantitative trait locus 8 9.5
813 brittle bone disorder 9.5
814 megalencephalic leukoencephalopathy with subcortical cysts 1 9.5
815 ataxia-telangiectasia-like disorder 1 9.5
816 panbronchiolitis, diffuse 9.5
817 dermatitis, atopic, 3 9.5
818 dermatitis, atopic, 4 9.5
819 dermatitis, atopic, 6 9.5
820 meningioma, radiation-induced 9.5
821 vitiligo-associated multiple autoimmune disease susceptibility 1 9.5
822 gastrointestinal stromal tumor 9.5
823 scheie syndrome 9.5
824 meningioma, familial 9.5
825 epileptic encephalopathy, early infantile, 6 9.5
826 epilepsy, partial, with pericentral spikes 9.5
827 coronary heart disease 1 9.5
828 body mass index quantitative trait locus 4 9.5
829 body mass index quantitative trait locus 10 9.5
830 niemann-pick disease, type c2 9.5
831 hypereosinophilic syndrome, idiopathic 9.5
832 body mass index quantitative trait locus 7 9.5
833 major depressive disorder 9.5
834 deafness, autosomal recessive 42 9.5
835 intraocular pressure quantitative trait locus 9.5
836 myd88 deficiency 9.5
837 body mass index quantitative trait locus 12 9.5
838 body mass index quantitative trait locus 14 9.5
839 complement component 3 deficiency, autosomal recessive 9.5
840 beta-thalassemia 9.5
841 psoriasis 14, pustular 9.5
842 myelodysplastic syndrome 9.5
843 human herpesvirus 8 9.5
844 schuurs-hoeijmakers syndrome 9.5
845 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.5
846 body mass index quantitative trait locus 18 9.5
847 hyperprolactinemia 9.5
848 pachyonychia congenita 3 9.5
849 carbonic anhydrase va deficiency, hyperammonemia due to 9.5
850 melanoma, cutaneous malignant 10 9.5
851 immunodeficiency 52 9.5
852 joint laxity, short stature, and myopia 9.5
853 body mass index quantitative trait locus 19 9.5
854 body mass index quantitative trait locus 20 9.5
855 cefaclor allergy 9.5
856 streptococcus pneumonia 9.5
857 bacterial sepsis 9.5
858 autoimmune vasculitis 9.5
859 pemphigus gestationis 9.5
860 chikungunya 9.5
861 hemophagocytic lymphohistiocytosis 9.5
862 aspiration pneumonia 9.5
863 tick-borne encephalitis 9.5
864 angiostrongyliasis 9.5
865 ophthalmomyiasis 9.5
866 loeys-dietz syndrome 9.5
867 multinodular goiter 9.5
868 adult t-cell leukemia 9.5
869 brachydactyly 9.5
870 fetal alcohol syndrome 9.5
871 small cell carcinoma 9.5
872 fetal alcohol spectrum disorder 9.5
873 chorioamnionitis 9.5
874 peripheral t-cell lymphoma 9.5
875 splenic marginal zone lymphoma 9.5
876 renal fibrosis 9.5
877 colorectal adenocarcinoma 9.5
878 adrenal gland pheochromocytoma 9.5
879 salivary gland carcinoma 9.5
880 gastrointestinal carcinoma 9.5
881 infective endocarditis 9.5
882 withdrawal disorder 9.5
883 cd40 ligand deficiency 9.5
884 autism spectrum disorder 9.5
885 gluten allergy 9.5
886 diffuse alopecia areata 9.5
887 generalized epilepsy with febrile seizures plus 9.5
888 microscopic colitis 9.5
889 lymphocytic colitis 9.5
890 crohn's colitis 9.5
891 stuttering 9.5
892 ptosis 9.5
893 inguinal hernia 9.5
894 umbilical hernia 9.5
895 chicken egg allergy 9.5
896 timothy grass allergy 9.5
897 cherry allergy 9.5
898 melon allergy 9.5
899 crab allergy 9.5
900 snail allergy 9.5
901 autosomal recessive congenital ichthyosis 9.5
902 autosomal dominant nocturnal frontal lobe epilepsy 9.5
903 thrombosis 9.5
904 miyoshi muscular dystrophy 9.5
905 hereditary lymphedema i 9.5
906 bone disease 9.5
907 childhood b-cell acute lymphoblastic leukemia 9.5
908 lymphoblastic lymphoma 9.5
909 adenoid cystic carcinoma 9.5
910 polycystic kidney disease 9.5
911 asymptomatic neurosyphilis 9.5
912 trypanosomiasis 9.5
913 neuroretinitis 9.5
914 osteomyelitis 9.5
915 thalassemia 9.5
916 sialadenitis 9.5
917 endocarditis 9.5
918 asbestosis 9.5
919 berylliosis 9.5
920 byssinosis 9.5
921 silicosis 9.5
922 mooren's ulcer 9.5
923 viral pneumonia 9.5
924 glucose intolerance 9.5
925 short bowel syndrome 9.5
926 partial optic atrophy 9.5
927 portal hypertension 9.5
928 thrombotic thrombocytopenic purpura 9.5
929 gastric ulcer 9.5
930 lepromatous leprosy 9.5
931 hemiplegia 9.5
932 pasteurellosis 9.5
933 chorioretinal scar 9.5
934 spondyloarthropathy 9.5
935 disseminated intravascular coagulation 9.5
936 cat-scratch disease 9.5
937 arteriovenous malformation 9.5
938 spinal meningioma 9.5
939 choroiditis 9.5
940 alternating exotropia 9.5
941 exotropia 9.5
942 listeriosis 9.5
943 cicatricial pemphigoid 9.5
944 nephrosclerosis 9.5
945 choledocholithiasis 9.5
946 iron deficiency anemia 9.5
947 chronic laryngitis 9.5
948 protein-energy malnutrition 9.5
949 myopia 9.5
950 coronary thrombosis 9.5
951 hemosiderosis 9.5
952 dengue disease 9.5
953 alcoholic hepatitis 9.5
954 bronchopneumonia 9.5
955 pancytopenia 9.5
956 capillariasis 9.5
957 diabetic polyneuropathy 9.5
958 ancylostomiasis 9.5
959 dilated cardiomyopathy 9.5
960 carotid stenosis 9.5
961 esophageal candidiasis 9.5
962 acute cystitis 9.5
963 porphyria 9.5
964 paranasal sinus disease 9.5
965 kwashiorkor 9.5
966 premature ejaculation 9.5
967 bird fancier's lung 9.5
968 acute poststreptococcal glomerulonephritis 9.5
969 adult dermatomyositis 9.5
970 renal tubular acidosis 9.5
971 adult-onset still's disease 9.5
972 dracunculiasis 9.5
973 gonadal dysgenesis 9.5
974 hantavirus pulmonary syndrome 9.5
975 pemphigoid gestationis 9.5
976 root resorption 9.5
977 hereditary angioedema 9.5
978 alcohol use disorder 9.5
979 acute chest syndrome 9.5
980 thrombocytopenia due to platelet alloimmunization 9.5
981 mental depression 9.5
982 pneumothorax 9.5
983 richter's syndrome 9.5
984 histoplasmosis 9.5
985 cheilitis 9.5
986 calcinosis 9.5
987 mononeuritis multiplex 9.5
988 gaucher's disease 9.5
989 enthesopathy 9.5
990 hepatitis d 9.5
991 maxillary sinusitis 9.5
992 transient arthritis 9.5
993 b cell deficiency 9.5
994 dental caries 9.5
995 amelogenesis imperfecta 9.5
996 myeloproliferative neoplasm 9.5
997 focal epilepsy 9.5
998 hepatitis 9.5
999 colon adenocarcinoma 9.5
1000 iron metabolism disease 9.5
1001 neonatal jaundice 9.5
1002 blepharoconjunctivitis 9.5
1003 giant papillary conjunctivitis 9.5
1004 hereditary spastic paraplegia 9.5
1005 splenic disease 9.5
1006 hemangioma 9.5
1007 familial nephrotic syndrome 9.5
1008 cystadenoma 9.5
1009 benign mesothelioma 9.5
1010 acrodermatitis 9.5
1011 bronchiolitis obliterans 9.5
1012 hypersensitivity reaction type iv disease 9.5
1013 newcastle disease 9.5
1014 renal artery obstruction 9.5
1015 carbohydrate metabolic disorder 9.5
1016 acute kidney failure 9.5
1017 grade iii astrocytoma 9.5
1018 mucinoses 9.5
1019 keratoacanthoma 9.5
1020 tropical spastic paraparesis 9.5
1021 complex regional pain syndrome 9.5
1022 central nervous system lymphoma 9.5
1023 rhabdomyosarcoma 9.5
1024 teratoma 9.5
1025 embryonal carcinoma 9.5
1026 central nervous system disease 9.5
1027 mood disorder 9.5
1028 granulomatous myositis 9.5
1029 cerebritis 9.5
1030 breast adenocarcinoma 9.5
1031 breast disease 9.5
1032 plague 9.5
1033 gestational trophoblastic neoplasm 9.5
1034 choriocarcinoma 9.5
1035 retinitis 9.5
1036 vulvitis 9.5
1037 acute myocarditis 9.5
1038 eosinophilic gastritis 9.5
1039 tick infestation 9.5
1040 nail disease 9.5
1041 primary syphilis 9.5
1042 rh isoimmunization 9.5
1043 hyperglycemia 9.5
1044 polyradiculoneuropathy 9.5
1045 burning mouth syndrome 9.5
1046 amelanotic melanoma 9.5
1047 secretory meningioma 9.5
1048 lymphoplasmacyte-rich meningioma 9.5
1049 holoprosencephaly 9.5
1050 suppurative lymphadenitis 9.5
1051 indolent systemic mastocytosis 9.5
1052 uremia 9.5
1053 endophthalmitis 9.5
1054 brain edema 9.5
1055 atrophic rhinitis 9.5
1056 subacute glomerulonephritis 9.5
1057 mesangial proliferative glomerulonephritis 9.5
1058 sm-ahnmd 9.5
1059 cavernous hemangioma 9.5
1060 poliomyelitis 9.5
1061 epidermolysis bullosa dystrophica 9.5
1062 essential tremor 9.5
1063 thyroid gland disease 9.5
1064 plexiform neurofibroma 9.5
1065 infertility 9.5
1066 hydrarthrosis 9.5
1067 colonic disease 9.5
1068 scrapie 9.5
1069 t-cell adult acute lymphocytic leukemia 9.5
1070 histiocytic and dendritic cell cancer 9.5
1071 follicular dendritic cell sarcoma 9.5
1072 fibromyalgia 9.5
1073 inherited metabolic disorder 9.5
1074 cerebrovascular disease 9.5
1075 langerhans cell sarcoma 9.5
1076 malignant pleural mesothelioma 9.5
1077 diverticulitis 9.5
1078 muscular atrophy 9.5
1079 epilepsy with generalized tonic-clonic seizures 9.5
1080 childhood leukemia 9.5
1081 chronic kidney disease 9.5
1082 interdigitating dendritic cell sarcoma 9.5
1083 mediastinitis 9.5
1084 periapical periodontitis 9.5
1085 complement component 3 deficiency 9.5
1086 actinomycosis 9.5
1087 bullous skin disease 9.5
1088 impetigo 9.5
1089 monocytic leukemia 9.5
1090 sezary's disease 9.5
1091 nervous system disease 9.5
1092 gastroduodenitis 9.5
1093 neurofibromatosis 9.5
1094 bacterial pneumonia 9.5
1095 pityriasis rosea 9.5
1096 skin melanoma 9.5
1097 atrophic gastritis 9.5
1098 autosomal dominant polycystic kidney disease 9.5
1099 parapsoriasis 9.5
1100 eczema herpeticum 9.5
1101 lymphangitis 9.5
1102 exophthalmos 9.5
1103 intracranial hypertension 9.5
1104 fatty liver disease 9.5
1105 otitis externa 9.5
1106 neurofibroma 9.5
1107 yellow fever 9.5
1108 bacterial conjunctivitis 9.5
1109 polyarteritis nodosa 9.5
1110 refractive error 9.5
1111 miliary tuberculosis 9.5
1112 limb-girdle muscular dystrophy 9.5
1113 myotonic dystrophy 9.5
1114 49, xxxxx 9.5
1115 acquired hemophilia 9.5
1116 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.5
1117 autoimmune encephalitis 9.5
1118 autoimmune enteropathy 9.5
1119 autoimmune myocarditis 9.5
1120 cold agglutinin disease 9.5
1121 cutaneous larva migrans 9.5
1122 cutis verticis gyrata 9.5
1123 drug reaction with eosinophilia and systemic symptoms 9.5
1124 dwarfism 9.5
1125 exfoliative dermatitis 9.5
1126 fournier gangrene 9.5
1127 germ cells tumors 9.5
1128 granulocytopenia 9.5
1129 hereditary amyloidosis 9.5
1130 htlv-1 associated myelopathy/tropical spastic paraparesis 9.5
1131 immunoglobulin g deficiency 9.5
1132 lymphangiectasis 9.5
1133 lymphoma aids related 9.5
1134 lymphomatoid papulosis 9.5
1135 mollaret meningitis 9.5
1136 monoclonal mast cell activation syndrome 9.5
1137 neurosyphilis 9.5
1138 pityriasis lichenoides 9.5
1139 post-transplant lymphoproliferative disease 9.5
1140 postorgasmic illness syndrome 9.5
1141 primary agammaglobulinemia 9.5
1142 primary central nervous system lymphoma 9.5
1143 pulmonary sequestration 9.5
1144 pustular psoriasis 9.5
1145 rheumatoid vasculitis 9.5
1146 scleromyxedema 9.5
1147 spastic paraparesis 9.5
1148 spondylarthropathy 9.5
1149 t-cell lymphoma 1a 9.5
1150 transverse myelitis 9.5
1151 tuberculous meningitis 9.5
1152 undifferentiated connective tissue disease 9.5
1153 vulvar vestibulitis syndrome 9.5
1154 pacs1 syndrome 9.5
1155 raynaud phenomenon 9.5
1156 abdominal wall defect 9.5
1157 genetic epilepsy with febrile seizures plus 9.5
1158 chronic pain 9.5
1159 febrile seizures 9.5
1160 hypotonia 9.5
1161 hypoxia 9.5
1162 spinal cord injury 9.5
1163 tremor 9.5
1164 refractory anemia with excess blasts in transformation 9.5
1165 b-cell non-hodgkin lymphoma 9.5
1166 asbestos intoxication 9.5
1167 rare systemic disease 9.5
1168 idiopathic eosinophilic pneumonia 9.5
1169 complex chromosomal rearrangement 9.5
1170 microform holoprosencephaly 9.5
1171 rare hereditary hemochromatosis 9.5
1172 toxic oil syndrome 9.5
1173 chronic actinic dermatitis 9.5
1174 intermittent hydrarthrosis 9.5
1175 ring chromosome 9.5
1176 acute encephalopathy with biphasic seizures and late reduced diffusion 9.5
1177 fixed drug eruption 9.5
1178 acute generalized exanthematous pustulosis 9.5
1179 eosinophilic colitis 9.5
1180 ah amyloidosis 9.5
1181 moyamoya angiopathy 9.5
1182 paraneoplastic pemphigus 9.5
1183 acute liver failure 9.5
1184 complications after hematopoietic stem cell transplantation 9.5
1185 histiocytic sarcoma 9.5
1186 fungal keratitis 9.5
1187 autoimmune bullous skin disease 9.5
1188 paternal uniparental disomy 9.5
1189 rare tumor 9.5
1190 severe immune-mediated enteropathy 9.5
1191 light and heavy chain deposition disease 9.5
1192 heavy chain deposition disease 9.5
1193 thrombotic microangiopathy 9.5
1194 laminopathy 9.5
1195 polyendocrinopathy 9.5
1196 streptococcal toxic-shock syndrome 9.5
1197 eustachian tube disease 9.4 SLC6A20 SLC36A2
1198 hartnup disorder 8.5 SLC6A20 SLC6A19 SLC6A18 SLC36A1

Graphical network of the top 20 diseases related to Iminoglycinuria:



Diseases related to Iminoglycinuria

Symptoms & Phenotypes for Iminoglycinuria

Human phenotypes related to Iminoglycinuria:

58 31 (showing 8, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolinuria 58 31 obligate (100%) Obligate (100%) HP:0003137
2 hydroxyprolinuria 58 31 obligate (100%) Obligate (100%) HP:0003080
3 hyperglycinuria 58 31 obligate (100%) Obligate (100%) HP:0003108
4 intellectual disability 31 HP:0001249
5 abnormality of the eye 31 HP:0000478
6 hyperprolinemia 58 Excluded (0%)
7 hyperglycinemia 58 Excluded (0%)
8 hydroxyprolinemia 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
prolinuria
hydroxyprolinuria
iminoglycinuria
hyperglycinuria (also present in heterozygotes)

Clinical features from OMIM:

242600

GenomeRNAi Phenotypes related to Iminoglycinuria according to GeneCards Suite gene sharing:

26 (showing 14, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.53 SLC6A20
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.53 SLC36A2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-114 9.53 SLC6A20
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-127 9.53 SLC36A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.53 SLC36A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.53 SLC6A20
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.53 SLC36A2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-158 9.53 SLC36A2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-185 9.53 SLC6A18
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.53 SLC36A2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.53 SLC6A20
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.53 SLC6A18
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.53 SLC6A18
14 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 9.13 SLC36A1 SLC36A2 SLC6A20

Drugs & Therapeutics for Iminoglycinuria

Search Clinical Trials , NIH Clinical Center for Iminoglycinuria

Genetic Tests for Iminoglycinuria

Genetic tests related to Iminoglycinuria:

# Genetic test Affiliating Genes
1 Iminoglycinuria 29 SLC36A2 SLC6A19 SLC6A20

Anatomical Context for Iminoglycinuria

MalaCards organs/tissues related to Iminoglycinuria:

40
Eye, Retina, Kidney, Cortex, Skin

Publications for Iminoglycinuria

Articles related to Iminoglycinuria:

(showing 46, show less)
# Title Authors PMID Year
1
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. 6 56 61
19033659 2008
2
Atypical gyrate atrophy of the choroid and retina and iminoglycinuria. 56 61
7314117 1981
3
Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype". 56 61
955941 1976
4
Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids. 61 56
5308714 1970
5
Familial iminoglycinuria. An inborn error of renal tubular transport. 56 61
5652624 1968
6
Cystathioninuria and renal iminoglycinuria in a pedigree. 56 61
5644557 1968
7
Iminoaciduria: a benign renal tubular defect. 56
5567964 1971
8
Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney. 56
5641621 1968
9
Impaired intestinal transport of proline in a patient with familial iminoaciduria. 56
6029472 1967
10
Prolinuria: a new renal tubular defect in transport of proline and glycine. 56
5864167 1965
11
Isolation and function of the amino acid transporter PAT1 (slc36a1) from rabbit and discrimination between transport via PAT1 and system IMINO in renal brush-border membrane vesicles. 54 61
16373326 2005
12
Amino Acid Transport Across the Mammalian Intestine. 61
30549024 2018
13
Intestinal IMINO transporter SIT1 is not expressed in human newborns. 61
30160974 2018
14
Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors. 61
25534429 2015
15
Diseases associated with general amino acid transporters of the solute carrier 6 family (SLC6). 61
23876153 2013
16
The SLC36 family of proton-coupled amino acid transporters and their potential role in drug transport. 61
21501141 2011
17
A genome-wide association study of metabolic traits in human urine. 61
21572414 2011
18
Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria. 61
20377526 2010
19
Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20). 61
19657969 2009
20
Apical transporters for neutral amino acids: physiology and pathophysiology. 61
18400692 2008
21
Aminoacidurias: Clinical and molecular aspects. 61
18200002 2008
22
Amino acid transport across mammalian intestinal and renal epithelia. 61
18195088 2008
23
The molecular basis of neutral aminoacidurias. 61
16052352 2006
24
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. 61
11510941 2001
25
[Familial iminoglycinuria]. 61
9645136 1998
26
[Coffin-Lowry syndrome and hyperprolinemia]. 61
8135609 1993
27
Iminoglycinuria: a benign type of inherited aminoaciduria. 61
7504361 1993
28
[Inherited amino acid transport disorders]. 61
1404888 1992
29
[A case of type I hyperprolinemia associated with photogenic epilepsy]. 61
1994998 1991
30
A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina. A case report. 61
4003043 1985
31
[Patterns of urinary aminoacid excretion in exceptional children and patients with mental disorders in Costa Rica]. 61
6665250 1983
32
Neonatal iminoglycinuria: evidence that the prolinuria originates in selective deficiency of transport activity in the proximal nephron. 61
7110792 1982
33
Atypical gyrate atrophy of the choroid and retina associated with iminoglycinuria. 61
7065959 1982
34
Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies. 61
7411317 1980
35
Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria. 61
6775144 1980
36
Review of Metabolic Screening Program of Children's Hospital, Vancouver, British Columbia. 1971--1977. 61
519848 1979
37
Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice. 61
313837 1979
38
Uptake of glycine by human kidney cortex. 61
449705 1979
39
Ontogeny of amino acid reabsorption in human kidney. Evidence from the homozygous infant with familial renal iminoglycinuria for multiple proline and glycine systems. 61
432003 1979
40
A new type of heterozygote of familial renal iminoglycinuria. 61
732833 1978
41
Transport of amino acids in renal brush border membrane vesicles. Uptake of L-proline. 61
833146 1977
42
Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. 61
956388 1976
43
Proceedings: Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids. 61
1205812 1975
44
Iminoglycinuria in a child in Czechoslovakia. 61
4744406 1973
45
Iminoglycinuria. A defect of renal tubular transport. 61
5042951 1972
46
Iminoglycinuria--a "harmless" inborn error of metabolism? 61
5713621 1968

Variations for Iminoglycinuria

ClinVar genetic disease variations for Iminoglycinuria:

6 (showing 5, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC6A19 NM_001003841.3(SLC6A19):c.1017-4G>ASNV Pathogenic 2021 rs35329108 5:1216900-1216900 5:1216785-1216785
2 SLC36A2 SLC36A2, IVS1, G-A, +1SNV Pathogenic 2385
3 SLC36A2 NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val)SNV Conflicting interpretations of pathogenicity 2384 rs77010315 5:150723155-150723155 5:151343594-151343594
4 SLC6A19 NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)SNV Conflicting interpretations of pathogenicity 2019 rs121434346 5:1212453-1212453 5:1212338-1212338
5 SLC6A20 NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met)SNV Benign 4845 rs17279437 3:45814094-45814094 3:45772602-45772602

UniProtKB/Swiss-Prot genetic disease variations for Iminoglycinuria:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 SLC36A2 p.Gly87Val VAR_064795 rs77010315

Expression for Iminoglycinuria

Search GEO for disease gene expression data for Iminoglycinuria.

Pathways for Iminoglycinuria

Pathways related to Iminoglycinuria according to KEGG:

36 (showing 2, show less)
# Name Kegg Source Accession
1 Protein digestion and absorption hsa04974
2 Mineral absorption hsa04978

Pathways related to Iminoglycinuria according to GeneCards Suite gene sharing:

(showing 4, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1
2
Show member pathways
12.16 SLC6A19 SLC36A2 SLC36A1
3 11.49 SLC6A20 SLC6A19 SLC6A18
4
Show member pathways
10.54 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1

GO Terms for Iminoglycinuria

Cellular components related to Iminoglycinuria according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.72 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1
2 plasma membrane GO:0005886 9.65 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1
3 brush border membrane GO:0031526 9.16 SLC6A19 SLC6A18
4 apical plasma membrane GO:0016324 9.13 SLC6A20 SLC6A19 SLC6A18
5 vacuolar membrane GO:0005774 8.62 SLC36A2 SLC36A1

Biological processes related to Iminoglycinuria according to GeneCards Suite gene sharing:

(showing 11, show less)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.65 SLC6A20 SLC6A19 SLC6A18
2 neurotransmitter transport GO:0006836 9.58 SLC6A20 SLC6A19 SLC6A18
3 transport GO:0006810 9.54 SLC6A20 SLC6A19 SLC6A18
4 glycine transport GO:0015816 9.5 SLC6A20 SLC36A2 SLC36A1
5 proton transmembrane transport GO:1902600 9.49 SLC36A2 SLC36A1
6 neutral amino acid transport GO:0015804 9.46 SLC6A19 SLC36A1
7 L-alanine transport GO:0015808 9.43 SLC36A2 SLC36A1
8 proline transport GO:0015824 9.43 SLC6A20 SLC36A2 SLC36A1
9 amino acid transport GO:0006865 9.35 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1
10 proline transmembrane transport GO:0035524 9.33 SLC6A20 SLC36A2 SLC36A1
11 amino acid transmembrane transport GO:0003333 9.02 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1

Molecular functions related to Iminoglycinuria according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 9.46 SLC36A2 SLC36A1
2 symporter activity GO:0015293 9.46 SLC6A20 SLC6A19 SLC6A18 SLC36A1
3 neutral amino acid transmembrane transporter activity GO:0015175 9.43 SLC6A19 SLC36A1
4 neurotransmitter:sodium symporter activity GO:0005328 9.43 SLC6A20 SLC6A19 SLC6A18
5 glycine transmembrane transporter activity GO:0015187 9.4 SLC36A2 SLC36A1
6 L-alanine transmembrane transporter activity GO:0015180 9.37 SLC36A2 SLC36A1
7 amino acid:proton symporter activity GO:0005280 9.32 SLC36A2 SLC36A1
8 L-proline transmembrane transporter activity GO:0015193 9.13 SLC6A20 SLC36A2 SLC36A1
9 amino acid transmembrane transporter activity GO:0015171 9.02 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1

Sources for Iminoglycinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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